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Cyp27a1tm1Elt
Targeted Allele Detail
Nomenclature
Symbol: Cyp27a1tm1Elt
Name: cytochrome P450, family 27, subfamily a, polypeptide 1; targeted mutation 1, Eran Leitersdorf
MGI ID: MGI:2181406
Synonyms: cyp27-, Cyp27 -, Cyp27a1-
Gene: Cyp27a1  Location: Chr1:74752733-74777051 bp, + strand  Genetic Position: Chr1, 38.54 cM, cytoband C3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:48127
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 71 bp fragment of exon 8 was deleted and replaced with a neomycin resistance gene via homologous recombination. The mutant allele was verified by Northern blot analysis of liver extracts from homozygous mutant mice. Western blot analysis of total liver mitochondrial protein from homozygous mutants confirmed the absence of protein product. (J:48127)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Cyp27a1 Mutation:  20 strains or lines available
References
Original:  J:48127 Rosen H, et al., Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem. 1998 Jun 12;273(24):14805-12
All:  29 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
01/18/2022
MGI 6.17
The Jackson Laboratory