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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dhcr7tm2Fdp
targeted mutation 2, Forbes D Porter
MGI:3621217
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dhcr7tm2Fdp/Dhcr7tm2Fdp involves: 129S4/SvJae MGI:3621458
ht2
Dhcr7tm1Fdp/Dhcr7tm2Fdp involves: 129S4/SvJae MGI:3621459


Genotype
MGI:3621458
hm1
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 (27 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
DO ID OMIM ID(s) Ref(s)
Smith-Lemli-Opitz syndrome DOID:14692 OMIM:270400
J:106758




Genotype
MGI:3621459
ht2
Allelic
Composition
Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm1Fdp mutation (0 available); any Dhcr7 mutation (27 available)
Dhcr7tm2Fdp mutation (0 available); any Dhcr7 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory