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Cyp46a1tm1Rus
Targeted Allele Detail
Summary
Symbol: Cyp46a1tm1Rus
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: Cyp46a1tm1Rus 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 detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  19 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:  17 reference(s)

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
04/23/2024
MGI 6.23
The Jackson Laboratory