Cacna1s^mdg
Spontaneous Allele Detail

Summary

• Symbol: Cacna1s^mdg
• 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: Cacna1s^mdg 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

Expression

In Mice Carrying this Mutation:	18 assay results 2 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: 117 strains or lines available

Notes

A possible effect of the mutation in heterozygotes (Cacna1s^mdg/+) was discovered by Atchley et al. (J:7655), who found that the dimensions and shape of the mandible showed greater right-left asymmetry in Cacna1s^mdg/+ 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: 55 reference(s)