Cyp46a1^tm1Rus
Targeted Allele Detail

Summary

• Symbol: Cyp46a1^tm1Rus
• Name: cytochrome P450, family 46, subfamily a, polypeptide 1; targeted mutation 1, David W Russell
• MGI ID: MGI:2667348
• Synonyms: Cyp46a1-
• Gene: Cyp46a1 Location: Chr12:108300640-108328493 bp, + strand Genetic Position: Chr12, 59.41 cM, cytoband F2
• Alliance: Cyp46a1^tm1Rus page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:84116
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 3 prime portion of exon 1 as well as a small part of intron 1 were replaced with DNA sequence encoding the N terminus of the bovine tau protein fused to the lacZ gene. mRNA for the targeted gene and its protein were undetectable in the brain of homozygous mice and were reduced in heterozygotes. (J:84116)

Expression

In Mice Carrying this Mutation:

20 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cyp46a1 Mutation: 20 strains or lines available

References

• Original: J:84116 Lund EG, et al., Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover. J Biol Chem. 2003 Jun 20;278(25):22980-8
• All: 18 reference(s)