Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1684622 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272922 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the skeleton (limbs, shoulder, hip). |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752422 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3267322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1718522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3283722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the endocrine system. |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1781522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1759722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1750322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1775122 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274122 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3287422 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1624622 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the digestive system. |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1721422 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1646922 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1736222 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1683322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1700022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1832122 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1876522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the immune system. |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1741222 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3599822 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280922 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1833322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3287022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1821522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3557722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1702122 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1756322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1668822 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1738322 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1802422 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1768022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the skull (base and vault). |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4428880 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:2672022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5422706 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in whisker follicle. |
Specimen Label: |
EN2704; Specimen N1079 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
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2010 |
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J Biol Chem |
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Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. |
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285 |
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5 |
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3360-70 |
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Lee WS |
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2007 |
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J Biol Chem |
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Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. |
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282 |
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37 |
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Publication |
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Idol RA |
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PLoS One |
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Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. |
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9 |
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10 |
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e109768 |
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2009 |
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Vet Pathol |
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Comparative pathology of murine mucolipidosis types II and IIIC. |
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46 |
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2 |
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313-24 |
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2011 |
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J Pathol |
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Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. |
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225 |
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12-8 |
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Westermann LM |
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2021 |
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Sci Rep |
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Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice. |
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11 |
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1 |
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3556 |
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Cordes SP |
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Cell |
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The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor. |
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Boonen M |
Year: |
2009 |
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Mol Biol Cell |
Title: |
Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. |
Volume: |
20 |
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20 |
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4381-9 |
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Brommage R |
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2014 |
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Bone Res |
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High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes. |
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2 |
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14034 |
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Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
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Collin GB |
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2020 |
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Cells |
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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
Volume: |
9 |
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4 |
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Publication |
First Author: |
The RIKEN BioResource Center |
Year: |
2006 |
Journal: |
Unpublished |
Title: |
Information obtained from The RIKEN BioResource Center |
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Publication |
First Author: |
MGI and IMPC |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
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Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
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17 |
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9918-22 |
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First Author: |
Visel A |
Year: |
2004 |
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Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
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Database issue |
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D552-6 |
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Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
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Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
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Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
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Title: |
MGI Sequence Curation Reference |
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Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
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24 |
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14109-14 |
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Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
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Title: |
Nomenclature Committee Use |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
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337-42 |
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First Author: |
Adams DJ |
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2024 |
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Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
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8002 |
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GemPharmatech |
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2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
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Database Download |
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Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
|
Allele |
Name: |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1235
|
Fragment?: |
false |
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•
•
•
•
|
Publication |
First Author: |
Qian Y |
Year: |
2015 |
Journal: |
J Biol Chem |
Title: |
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. |
Volume: |
290 |
Issue: |
5 |
Pages: |
3045-56 |
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•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1189
|
Fragment?: |
false |
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•
•
•
•
•
|
Allele |
Name: |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; Nymphe |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
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•
•
•
•
•
|
Allele |
Name: |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Katrin Kollmann |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
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•
•
•
•
•
|
Allele |
Name: |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; gene trap OST97730, Lexicon Genetics |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout |
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•
•
•
•
•
|
Allele |
Name: |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Dong-Kyu Jin |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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•
•
•
•
•
|
Genotype |
Symbol: |
Gnptab/Gnptab |
Background: |
involves: 129S5/SvEvBrd * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gnptab/Gnptab |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gnptab/Gnptab |
Background: |
involves: BALB/cAnNHsd * C3H/HeNHsd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gnptab/Gnptab |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu L |
Year: |
2017 |
Journal: |
FEBS Lett |
Title: |
Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase. |
Volume: |
591 |
Issue: |
1 |
Pages: |
47-55 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The Golgi enzyme UDP-GlcNAc-lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), an alpha2beta2gamma2 hexamer, mediates the initial step in the addition of the mannose 6-phosphate targeting signal on newly synthesized lysosomal enzymes []. GNPTAB encodes the alpha and beta subunits of GlcNAc-1-phosphotransferase, and mutations in this gene cause the lysosomal storage disorders mucolipidosis II and III alpha-beta. The alpha-beta subunits contain three identifiable domains separated by so-called spacer regions. This domain is part of the first spacer region, Spacer-1 []. Studies indicate that GlcNAc-1 lacking spacer-1 exhibits enhanced phosphorylation of several non-lysosomal glycoproteins, while the phosphorylation of lysosomal acid hydrolases is not altered. In view of these effects on the maturation and function of GlcNAc-1, it is suggested to rename 'spacer-1' the 'regulatory-1' domain []. |
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•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
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•
•
•
•
|