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Search results 101 to 200 out of 205 for Sco2

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Type Details Score
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3287022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3557722
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1702122
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1668822
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757722
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1738322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1802422
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
   
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1768022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Note: Expression was not detected in the skull (base and vault).
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:2672022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Note: Expression was not detected in whisker follicle.
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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Protein Coding Gene
MGP_AJ_G0022188 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0021964 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0021486 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0022037 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0022654 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0020169 | -
Type: protein_coding_gene
Organism: Mus pahari
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GXD Expression
GXD Expression
     
Probe: MGI:4948517
Assay Type: Northern blot
Annotation Date: 2011-04-28
Strength: Present
Sex: Pooled
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:4948526
Age: postnatal week 8-10
Specimen Label: Liver
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
     
Probe: MGI:4948517
Assay Type: Northern blot
Annotation Date: 2011-04-28
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603922
Stage: TS22
Assay Id: MGI:4948526
Age: embryonic day 14.0
Specimen Label: Embryo
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
     
Probe: MGI:4948517
Assay Type: Northern blot
Annotation Date: 2011-04-28
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:4948526
Age: postnatal week 8-10
Specimen Label: Testes
Detected: true
Specimen Num: 9
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GXD Expression
GXD Expression
     
Probe: MGI:7264673
Assay Type: RT-PCR
Annotation Date: 2022-04-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603912
Stage: TS12
Assay Id: MGI:7264692
Age: embryonic day 8.25
Specimen Label: Jmjd5 delta/delta
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1691622
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1737322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1619822
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
GXD Expression
GXD Expression
   
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3276322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Note: Expression was not detected in the face/soft tissues.
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1706822
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1738222
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1684922
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1755022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610422
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1753622
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1795022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3286922
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1754422
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672822
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3284522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689622
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1647022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3274322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1685322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
GXD Expression
GXD Expression
   
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3272922
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Note: Expression was not detected in the skeleton (limbs, shoulder, hip).
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1718522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1781522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672722
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3274122
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1624622
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Image: EH3792; Specimen C3465
Note: Expression was weak in the digestive system.
Specimen Label: EH3792; Specimen C3465
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1736222
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1832122
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1754022
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1833322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1821522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1756322
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
•
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•
•
•
GXD Expression
GXD Expression
     
Probe: MGI:4416568
Assay Type: RNA in situ
Annotation Date: 2012-06-20
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757522
Stage: TS22
Assay Id: MGI:5425154
Age: embryonic day 14.5
Specimen Label: EH3792; Specimen C3465
Detected: false
Specimen Num: 1
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•
GXD Expression
GXD Expression
 
Probe: MGI:4948531
Assay Type: Immunohistochemistry
Annotation Date: 2011-04-28
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:4948542
Age: postnatal
Note: Expression appears to be generally uniform in the tissue, although it does not appear to be present in the vasculature.
Specimen Label: Brain
Detected: true
Specimen Num: 1
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Publication
23643385 | -
First Author: Tran-Viet KN
Year: 2013
Journal: Am J Hum Genet
Title: Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Volume: 92
Issue: 5
Pages: 820-6
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Publication
26334721 | J:268858
First Author: Ishimura A
Year: 2016
Journal: Cell Tissue Res
Title: Jmjd5 functions as a regulator of p53 signaling during mouse embryogenesis.
Volume: 363
Issue: 3
Pages: 723-33
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Publication
14681479 | J:122989
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
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Publication
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:144087
     
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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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155721
     
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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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Protein
Q8VCL2
Organism: Mus musculus/domesticus
Length: 255  
Fragment?: false
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UniProt Feature
UniProt Feature
Begin: 42
Description: Protein SCO2 homolog, mitochondrial
Type: chain
End: 255
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Allele
Sco2<+> | MGI:3818631
 
Name: SCO2 cytochrome c oxidase assembly protein; wild type
Allele Type: Not Specified
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Publication
17189203 | -
First Author: Leary SC
Year: 2007
Journal: Cell Metab
Title: The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
Volume: 5
Issue: 1
Pages: 9-20
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Publication
15229189 | -
First Author: Leary SC
Year: 2004
Journal: Hum Mol Genet
Title: Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
Volume: 13
Issue: 17
Pages: 1839-48
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Allele
Sco2<tm1.1Easc> | MGI:4413584
Name: SCO2 cytochrome c oxidase assembly protein; targeted mutation 1.1, Eric A Schon
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Sco2<tm2.1Easc> | MGI:4413585
 
Name: SCO2 cytochrome c oxidase assembly protein; targeted mutation 2.1, Eric A Schon
Allele Type: Targeted
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DO Term
DOID:0080357 | mitochondrial complex IV deficiency nuclear type 2
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Strain
MGI:4414633 | 129X1/SvJ-Sco2<tm1.1Easc>
Attribute String: coisogenic, mutant strain, targeted mutation
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Strain
MGI:4414634 | 129X1/SvJ-Sco2<tm2.1Easc>
Attribute String: targeted mutation, mutant strain, coisogenic
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Genotype
Genotype
Symbol: Sco2/Sco2
Background: 129X1/SvJ-Sco2
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sco2/Sco2
Background: 129X1/SvJ-Sco2
Zygosity: hm
Has Mutant Allele: true
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Publication
24403053 | -
First Author: Bourens M
Year: 2014
Journal: Hum Mol Genet
Title: Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Volume: 23
Issue: 11
Pages: 2901-13
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Strain
MGI:4414635 | 129X1/SvJ-Sco2<tm1.1Easc>/Sco2<tm2.1Easc>
Attribute String: coisogenic, mutant strain, targeted mutation
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Genotype
Genotype
Symbol: Sco2/Sco2
Background: 129X1/SvJ-Sco2/Sco2
Zygosity: ht
Has Mutant Allele: true
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Publication
17850752 | -
First Author: Banci L
Year: 2007
Journal: Structure
Title: A structural characterization of human SCO2.
Volume: 15
Issue: 9
Pages: 1132-40
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Protein Domain
IPR017276 | Synth_of_cyt-c-oxidase_Sco1/2
Type: Family
Description: This entry represents cytochrome c oxidase assembly factors Sco1 and Sco2 (Synthesis of Cytochrome c Oxidase, factors 1 and 2), mitochondrial inner membrane-tethered metallochaperones that have regulatory roles in the maintenance of cellular copper homeostasis. These proteins are essential for the assembly of the catalytic core of cytochrome c oxidase (COX or complex IV), as well as other roles in copper homeostasis such as mitochondrial redox signalling []. Both Sco1 and Sco2 contain highly conserved CXXXC motifs thought to be required for copper binidng.COX is the terminal enzyme of the energy transducing respiratory chain in eukaryotes and certain prokaryotes. It catalyses the transfer of electrons from cytochrome c to molecular oxygen and pumps protons across the mitochondrial inner membrane to establish a proton gradient for ATP synthesis. It consists of 12-13 protein subunits, with 3 subunits (Cox1-Cox3) forming the enzyme core. COX uses haem and copper as cofactors: Cox1 contains a 1-copper centre (CuB) that interacts with the haem moiety and Cox2 contains a 2-copper centre (CuA). Sco1 and Sco2 act as copper chaperones, transporting copper to the CuA site in Cox2, and are thought to have cooperative functions in COX assembly [, ]. In addition, human Sco2 is also the downstream mediator of the balance between the utilization of respiratory and glycolytic pathways []and both Sco1 and Sco2 may have regulatory roles in regulating cellular copper levels (homeostasis) []. Sco2 may have a copper-level-detection signalling role, acting upstream and in conjunction with Sco1.Defects in Sco1 are a cause of cytochrome c oxidase deficiency (COX deficiency) (OMIM:220110), a clinically heterogeneous disorder with features ranging from isolated myopathy to severe multisystem disease, and onset from infancy to adulthood. Defects in Sco2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) (OMIM:604377, OMIM:220110), which is characterised by hypertrophic cardiomyopathy, lactic acidosis, and gliosis.
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Publication
15659396 | -
First Author: Williams JC
Year: 2005
Journal: J Biol Chem
Title: Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.
Volume: 280
Issue: 15
Pages: 15202-11
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Protein
Q9D6E8
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
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Publication
37456842 | J:338390
First Author: Wei J
Year: 2023
Journal: iScience
Title: Hepatic depletion of nucleolar protein mDEF causes excessive mitochondrial copper accumulation associated with p53 and NRF1 activation.
Volume: 26
Issue: 7
Pages: 107220
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Protein
Q3TJT6
Organism: Mus musculus/domesticus
Length: 247  
Fragment?: true
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Publication
24399447 | J:209159
First Author: Mourier A
Year: 2014
Journal: Hum Mol Genet
Title: Loss of LRPPRC causes ATP synthase deficiency.
Volume: 23
Issue: 10
Pages: 2580-92
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Publication
29467382 | J:312339
First Author: Wang S
Year: 2018
Journal: Cell Res
Title: KRAB-type zinc-finger proteins PITA and PISA specifically regulate p53-dependent glycolysis and mitochondrial respiration.
Volume: 28
Issue: 5
Pages: 572-592
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Publication
12928484 | J:341415
First Author: Antonicka H
Year: 2003
Journal: Hum Mol Genet
Title: Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Volume: 12
Issue: 20
Pages: 2693-702
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Publication
22900024 | J:189934
First Author: Napoli E
Year: 2012
Journal: PLoS One
Title: Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.
Volume: 7
Issue: 8
Pages: e42504
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Publication
1944230 | -
First Author: Buchwald P
Year: 1991
Journal: Mol Gen Genet
Title: Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane.
Volume: 229
Issue: 3
Pages: 413-20
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Publication
7592491 | -
First Author: Buggy J
Year: 1995
Journal: J Bacteriol
Title: Cloning and characterization of senC, a gene involved in both aerobic respiration and photosynthesis gene expression in Rhodobacter capsulatus.
Volume: 177
Issue: 23
Pages: 6958-65
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Publication
10837475 | -
First Author: Mattatall NR
Year: 2000
Journal: J Biol Chem
Title: Characterization of YpmQ, an accessory protein required for the expression of cytochrome c oxidase in Bacillus subtilis.
Volume: 275
Issue: 37
Pages: 28802-9
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Publication
15119951 | -
 
First Author: Pecina P
Year: 2004
Journal: Physiol Res
Title: Genetic defects of cytochrome c oxidase assembly.
Volume: 53 Suppl 1
Pages: S213-23
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Publication
11546815 | -
First Author: Nittis T
Year: 2001
Journal: J Biol Chem
Title: Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein.
Volume: 276
Issue: 45
Pages: 42520-6
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