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Cyp7b1tm1Rus
Targeted Allele Detail
Summary
Symbol: Cyp7b1tm1Rus
Name: cytochrome P450, family 7, subfamily b, polypeptide 1; targeted mutation 1, David W Russell
MGI ID: MGI:2387030
Synonyms: Cyp7b1-
Gene: Cyp7b1  Location: Chr3:18126114-18297502 bp, - strand  Genetic Position: Chr3, 4.98 cM
Alliance: Cyp7b1tm1Rus page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:62587
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacing the majority of exon 6 (encoding amino acids 410-507) with a neomycin resistance cassette. Homozygous mutant animals lacked enzyme activity as determined by assay of hepatic lysates. Northern blot anlaysis of homozygous animals showed expression of mutant RNA species of larger size compared to wild-type, presumably from abnormal splicing of the gene product. Western blot analysis using polyclonal antibodies recognizing amino acids 266-281 did not detect protein product in liver homogenates from homozygous mutant animals. (J:62587)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Cyp7b1 Mutation:  33 strains or lines available
Notes
ES cell line = I1C.
References
Original:  J:62587 Li-Hawkins J, et al., Disruption of the oxysterol 7alpha-hydroxylase gene in mice. J Biol Chem. 2000 Jun 2;275(22):16536-42
All:  13 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
11/12/2024
MGI 6.24
The Jackson Laboratory