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Phenotypes Associated with This Genotype
Genotype
MGI:3621458
Allelic
Composition
Dhcr7tm2Fdp/Dhcr7tm2Fdp
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm2Fdp mutation (0 available); any Dhcr7 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• ventricular dilation is seen at 3, 5, and 10 months of age
• seen in 6 of 9 homozygotes
• seen in 6 of 9 homozygotes

homeostasis/metabolism
• at P1 and 6 weeks of age, dehydrocholesterol levels are significantly increased in the central nervous system, liver and kidney
• at P1, cholesterol levels are decreased in the central nervous system, liver and kidney, however levels are similar to wild-type by 6 weeks

Mouse Models of Human Disease
OMIM ID Ref(s)
Smith-Lemli-Opitz Syndrome; SLOS 270400 J:106758


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory