Heterozygous females exhibit a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects.
|Process||cholesterol biosynthetic process, cholesterol metabolic process, ...|
|Component||endoplasmic reticulum, integral component of membrane, ...|
|Function||3-beta-hydroxy-delta5-steroid dehydrogenase activity, oxidoreductase activity, ...|
|VEGA Gene Model||OTTMUSG00000017843 (Evidence)|
|Ensembl Gene Model||ENSMUSG00000031349 (Evidence)|
|Entrez Gene||18194 (Evidence)|
|DoTS||DT.94343844, DT.492820, DT.40158368, DT.485623, DT.40168429|
|Consensus CDS Project||CCDS30190.1|
|International Mouse Phenotyping Consortium Status||Nsdhl|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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