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Bbs12tm1.1Vmar
Targeted Allele Detail
Summary
Symbol: Bbs12tm1.1Vmar
Name: Bardet-Biedl syndrome 12; targeted mutation 1.1, Vincent Marion
MGI ID: MGI:5444297
Gene: Bbs12  Location: Chr3:37366703-37375602 bp, + strand  Genetic Position: Chr3, 18.41 cM
Alliance: Bbs12tm1.1Vmar page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:189019
Parent Cell Line:  MC1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA floxed neo cassette replaced exon 2. Cre-mediated recombination removed the neo cassette. The absence of transcript expression was confirmed in adipose tissue and kidney. (J:189019)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Bbs12 Mutation:  28 strains or lines available
References
Original:  J:189019 Marion V, et al., BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metab. 2012 Sep 5;16(3):363-77
All:  3 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