Phenotypes Associated with This Genotype

Genotype
MGI:3621459

• Allelic Composition: Dhcr7^tm1Fdp/Dhcr7^tm2Fdp
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

embryonic lethality, incomplete penetrance ( J:106758 )

• about 25% of heterozygous embryos are lost before E13.5 when crosses involve mice homozygous for Dhcr7^tm2Fdp and heterozygous for Dhcr7^tm1Fdp, possibly the result of a maternal effect in the homozygous parent

nervous system

decreased brain size ( J:106758 )

• brain parenchymal volume is significantly reduced between 2 and 12 months of age

dilated brain ventricle ( J:106758 )

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

dilated lateral ventricle ( J:106758 )

• seen in 12 of 16 homozygotes

dilated third ventricle ( J:106758 )

• seen in 12 of 16 homozygotes

abnormal corpus callosum morphology ( J:106758 )

• rarely partial agenesis of the corpus callosum is seen

limbs/digits/tail

syndactyly ( J:106758 )

• second and third toe syndactyly is seen on at least 1 limb in 64% of mice and on 40% of all limbs display this phenotype

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