Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7576824 |
Assay Type: |
RNA in situ |
Annotation Date: |
2024-01-26 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1640616 |
Pattern: |
Not Specified |
Stage: |
TS16 |
Assay Id: |
MGI:7576852 |
Age: |
embryonic day 10.0 |
Image: |
4C Dhcr7 WT |
|
Specimen Label: |
4C Dhcr7 WT |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7576824 |
Assay Type: |
RNA in situ |
Annotation Date: |
2024-01-26 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1640616 |
Pattern: |
Regionally restricted |
Stage: |
TS16 |
Assay Id: |
MGI:7576852 |
Age: |
embryonic day 10.0 |
Image: |
4C Dhcr7 delta/deltac |
Note: |
Expression clearly altered compared to control. |
Specimen Label: |
4C Dhcr7 delta/deltac |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu H |
Year: |
2005 |
Journal: |
Brain Res Dev Brain Res |
Title: |
Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. |
Volume: |
156 |
Issue: |
1 |
Pages: |
46-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tint GS |
Year: |
2006 |
Journal: |
J Lipid Res |
Title: |
The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. |
Volume: |
47 |
Issue: |
7 |
Pages: |
1535-41 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu H |
Year: |
2007 |
Journal: |
BMC Dev Biol |
Title: |
Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. |
Volume: |
7 |
|
Pages: |
27 |
|
•
•
•
•
•
|
Publication |
First Author: |
Correa-Cerro LS |
Year: |
2005 |
Journal: |
Mol Genet Metab |
Title: |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. |
Volume: |
84 |
Issue: |
2 |
Pages: |
112-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fitzky BU |
Year: |
1998 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. |
Volume: |
95 |
Issue: |
14 |
Pages: |
8181-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Serra M |
Year: |
2010 |
Journal: |
J Steroid Biochem Mol Biol |
Title: |
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. |
Volume: |
122 |
Issue: |
5 |
Pages: |
318-25 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matabosch X |
Year: |
2009 |
Journal: |
J Steroid Biochem Mol Biol |
Title: |
Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. |
Volume: |
116 |
Issue: |
1-2 |
Pages: |
61-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fitzky BU |
Year: |
2001 |
Journal: |
J Clin Invest |
Title: |
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. |
Volume: |
108 |
Issue: |
6 |
Pages: |
905-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Waage-Baudet H |
Year: |
2003 |
Journal: |
Int J Dev Neurosci |
Title: |
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. |
Volume: |
21 |
Issue: |
8 |
Pages: |
451-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Blassberg R |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. |
Volume: |
25 |
Issue: |
4 |
Pages: |
693-705 |
|
•
•
•
•
•
|
Publication |
First Author: |
Korade Z |
Year: |
2013 |
Journal: |
Pharmacol Biochem Behav |
Title: |
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. |
Volume: |
106 |
|
Pages: |
101-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matabosch X |
Year: |
2010 |
Journal: |
J Steroid Biochem Mol Biol |
Title: |
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. |
Volume: |
122 |
Issue: |
5 |
Pages: |
303-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xiao J |
Year: |
2020 |
Journal: |
Immunity |
Title: |
Targeting 7-Dehydrocholesterol Reductase Integrates Cholesterol Metabolism and IRF3 Activation to Eliminate Infection. |
Volume: |
52 |
Issue: |
1 |
Pages: |
109-122.e6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kanuri B |
Year: |
2020 |
Journal: |
J Lipid Res |
Title: |
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome. |
Volume: |
62 |
|
Pages: |
100002 |
|
•
•
•
•
•
|
Publication |
First Author: |
Correa-Cerro LS |
Year: |
2006 |
Journal: |
Hum Mol Genet |
Title: |
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. |
Volume: |
15 |
Issue: |
6 |
Pages: |
839-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tomita H |
Year: |
2022 |
Journal: |
Elife |
Title: |
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome. |
Volume: |
11 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Solcà C |
Year: |
2007 |
Journal: |
Mol Genet Metab |
Title: |
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. |
Volume: |
91 |
Issue: |
1 |
Pages: |
7-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Waage-Baudet H |
Year: |
2005 |
Journal: |
Dev Neurosci |
Title: |
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. |
Volume: |
27 |
Issue: |
6 |
Pages: |
378-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiang XS |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. |
Volume: |
19 |
Issue: |
7 |
Pages: |
1347-57 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
471
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu H |
Year: |
2004 |
Journal: |
BMC Dev Biol |
Title: |
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. |
Volume: |
4 |
|
Pages: |
1 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Wassif CA |
Year: |
2001 |
Journal: |
Hum Mol Genet |
Title: |
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. |
Volume: |
10 |
Issue: |
6 |
Pages: |
555-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Patti GJ |
Year: |
2010 |
Journal: |
Neuroscience |
Title: |
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. |
Volume: |
170 |
Issue: |
3 |
Pages: |
858-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kovarova M |
Year: |
2006 |
Journal: |
J Exp Med |
Title: |
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. |
Volume: |
203 |
Issue: |
5 |
Pages: |
1161-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu W |
Year: |
2014 |
Journal: |
J Lipid Res |
Title: |
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. |
Volume: |
55 |
Issue: |
2 |
Pages: |
329-37 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xu L |
Year: |
2012 |
Journal: |
Neurobiol Dis |
Title: |
DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. |
Volume: |
45 |
Issue: |
3 |
Pages: |
923-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xu L |
Year: |
2013 |
Journal: |
J Lipid Res |
Title: |
Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells. |
Volume: |
54 |
Issue: |
4 |
Pages: |
1135-43 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2769723 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2853323 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_01 |
|
Specimen Label: |
euxassay_002715_01 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_02 |
|
Specimen Label: |
euxassay_002715_02 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_03 |
|
Specimen Label: |
euxassay_002715_03 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_04 |
|
Specimen Label: |
euxassay_002715_04 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_23 |
|
Specimen Label: |
euxassay_002715_23 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859023 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_24 |
|
Specimen Label: |
euxassay_002715_24 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2845723 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1795023 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1869223 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_07 |
|
Specimen Label: |
euxassay_002715_07 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_08 |
|
Specimen Label: |
euxassay_002715_08 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_09 |
|
Specimen Label: |
euxassay_002715_09 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_15 |
|
Specimen Label: |
euxassay_002715_15 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_16 |
|
Specimen Label: |
euxassay_002715_16 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_17 |
|
Specimen Label: |
euxassay_002715_17 |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1060743 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1842623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4824296 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_002715_18 |
|
Specimen Label: |
euxassay_002715_18 |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2762123 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797223 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1832123 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2851823 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2760523 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2852723 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5000837 |
Assay Type: |
RNA in situ |
Annotation Date: |
2014-02-07 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:2850023 |
Pattern: |
Not Specified |
Stage: |
TS23 |
Assay Id: |
MGI:5541396 |
Age: |
embryonic day 15.5 |
Image: |
GUDMAP:9301 |
|
Specimen Label: |
GUDMAP:9301 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gondré-Lewis MC |
Year: |
2006 |
Journal: |
J Cell Sci |
Title: |
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. |
Volume: |
119 |
Issue: |
Pt 9 |
Pages: |
1876-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Allen LB |
Year: |
2019 |
Journal: |
J Inherit Metab Dis |
Title: |
Desmosterolosis and desmosterol homeostasis in the developing mouse brain. |
Volume: |
42 |
Issue: |
5 |
Pages: |
934-943 |
|
•
•
•
•
•
|
Publication |
First Author: |
Moy SS |
Year: |
2009 |
Journal: |
Genes Brain Behav |
Title: |
Social approach in genetically engineered mouse lines relevant to autism. |
Volume: |
8 |
Issue: |
2 |
Pages: |
129-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lindegaard ML |
Year: |
2008 |
Journal: |
Hum Mol Genet |
Title: |
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. |
Volume: |
17 |
Issue: |
23 |
Pages: |
3806-13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gou-FÃ bregas M |
Year: |
2016 |
Journal: |
Sci Rep |
Title: |
7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome. |
Volume: |
6 |
|
Pages: |
28534 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nwokoro NA |
Year: |
2001 |
Journal: |
Mol Genet Metab |
Title: |
Genetic disorders of cholesterol biosynthesis in mice and humans. |
Volume: |
74 |
Issue: |
1-2 |
Pages: |
105-19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hogenboom S |
Year: |
2002 |
Journal: |
J Lipid Res |
Title: |
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. |
Volume: |
43 |
Issue: |
1 |
Pages: |
90-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gamart J |
Year: |
2021 |
Journal: |
Development |
Title: |
SMAD4 target genes are part of a transcriptional network that integrates the response to BMP and SHH signaling during early limb bud patterning. |
Volume: |
148 |
Issue: |
23 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
ÅžiÅŸecioÄŸlu M |
Year: |
2015 |
Journal: |
J Lipid Res |
Title: |
A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo. |
Volume: |
56 |
Issue: |
8 |
Pages: |
1551-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sacchetti P |
Year: |
2009 |
Journal: |
Cell Stem Cell |
Title: |
Liver X receptors and oxysterols promote ventral midbrain neurogenesis in vivo and in human embryonic stem cells. |
Volume: |
5 |
Issue: |
4 |
Pages: |
409-19 |
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniPathway vocabulary mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2018 |
Journal: |
Database Release |
Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
GUDMAP Consortium |
Year: |
2004 |
Journal: |
www.gudmap.org |
Title: |
GUDMAP: the GenitoUrinary Development Molecular Anatomy Project |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|