Mouse Genome Informatics
involves: 129S4/SvJae
phenotype observed in females
phenotype observed in males
N normal phenotype
• about 25% of heterozygous embryos are lost before E13.5 when crosses involve mice homozygous for Dhcr7tm2Fdp and heterozygous for Dhcr7tm1Fdp, possibly the result of a maternal effect in the homozygous parent

nervous system
• brain parenchymal volume is significantly reduced between 2 and 12 months of age
• ventricular dilation is seen at 3, 5, and 10 months of age
• seen in 12 of 16 homozygotes
• seen in 12 of 16 homozygotes
• rarely partial agenesis of the corpus callosum is seen

• 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

• 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
Smith-Lemli-Opitz Syndrome; SLOS 270400 J:106758