Phenotypes associated with this allele

• Allele Symbol: Cyp46a1^tm1Rus
• Allele Name: targeted mutation 1, David W Russell
• Allele ID: MGI:2667348
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp46a1^tm1Rus/Cyp46a1^tm1Rus	involves: 129 * C57BL/6J	MGI:2669517

Genotype
MGI:2669517

hm1

• Allelic Composition: Cyp46a1^tm1Rus/Cyp46a1^tm1Rus
• Genetic Background: involves: 129 * C57BL/6J

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

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:84116 )

• levels of 24(s)-hydroxycholesterol reduced to 11.4 ng/ml at 15 days of age and 7.4 ng/ml at 90 days age

• brain cholesterol synthesis reduced 40%; however, there were no significant differences in any other tissues of the body

• brain 24(s)hydroxycholesterol reduced 98-99%

• plasma cholesterol levels are within the normal range but tend to be somewhat low

• dietary cholesterol intake and absorption are normal