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Cacnb1tm1Rgg
Targeted Allele Detail
Summary
Symbol: Cacnb1tm1Rgg
Name: calcium channel, voltage-dependent, beta 1 subunit; targeted mutation 1, Ronald G Gregg
MGI ID: MGI:2181804
Synonyms: cchb1tm1, cchbl-
Gene: Cacnb1  Location: Chr11:97892339-97913860 bp, - strand  Genetic Position: Chr11, 61.5 cM
Alliance: Cacnb1tm1Rgg page
Muscle mass reduction and disorganization of myofibrils in Cacnb1tm1Rgg/Cacnb1tm1Rgg mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:37052
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin selection cassette replaced exon 6, which is common to all isoforms, and exons 7a and 7b, which are specific to muscle and brain isoforms, respectively. Protein was undetected by immunofluorescence analysis of homozygous mutant myotubes. (J:37052)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Cacnb1 Mutation:  26 strains or lines available
References
Original:  J:37052 Gregg RG, et al., Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13961-6
All:  6 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
10/22/2024
MGI 6.24
The Jackson Laboratory