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Cacna1smdg
Spontaneous Allele Detail
Summary
Symbol: Cacna1smdg
Name: calcium channel, voltage-dependent, L type, alpha 1S subunit; muscular dysgenesis
MGI ID: MGI:1856326
Synonyms: fmd, mdg, short jaw, sj
Gene: Cacna1s  Location: Chr1:135980549-136047268 bp, + strand  Genetic Position: Chr1, 59.55 cM, cytoband F
Alliance: Cacna1smdg page
Mutation
origin
Strain of Origin:  STOCK T/t4
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation details: A single nucleotide deletion occurs at nucleotide 4010, resulting in a frameshift mutation. The mutant polypeptide is predicted to contain an altered and truncated C terminus. (J:3462)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 18 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 35 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 Cacna1s Mutation:  118 strains or lines available
Notes
A possible effect of the mutation in heterozygotes (Cacna1smdg/+) was discovered by Atchley et al. (J:7655), who found that the dimensions and shape of the mandible showed greater right-left asymmetry in Cacna1smdg/+ than in +/+ mice and that the parts of the mandible affected were those with most extensive muscle attachment.
References
Original:  J:4466 Pai AC, Developmental genetics of a lethal mutation, muscular dysgenesis (mdg), in the mouse. I. Genetic analysis and gross morphology. Dev Biol. 1965 Feb;11:82-92
All:  54 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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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory