Phenotypes Associated with This Genotype

Genotype
MGI:3621458

• Allelic Composition: Dhcr7^tm2Fdp/Dhcr7^tm2Fdp
• Genetic Background: involves: 129S4/SvJae

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

dilated brain ventricle ( J:106758 )

• ventricular dilation is seen at 3, 5, and 10 months of age

dilated lateral ventricle ( J:106758 )

• seen in 6 of 9 homozygotes

dilated third ventricle ( J:106758 )

• seen in 6 of 9 homozygotes

homeostasis/metabolism

abnormal cholesterol level ( J:106758 )

• at P1 and 6 weeks of age, dehydrocholesterol levels are significantly increased in the central nervous system, liver and kidney

decreased cholesterol level ( J:106758 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Smith-Lemli-Opitz syndrome		DOID:14692	OMIM:270400	J:106758