Sgca^tm2.1Kcam
Targeted Allele Detail

Summary

• Symbol: Sgca^tm2.1Kcam
• Name: sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 2.1, Kevin P Campbell
• MGI ID: MGI:3772335
• Synonyms: H77C/H77C, Sgca^H77C/H77C
• Gene: Sgca Location: Chr11:94853617-94867153 bp, - strand Genetic Position: Chr11, 59.01 cM, cytoband C
• Alliance: Sgca^tm2.1Kcam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:130252
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: After germline-specific Cre-mediated excision of the floxed neomycin cassette achieved by crossing mice carrying the floxed allele with mice expressing either EIIa-cre or protamine 1-cre, the Sgca locus expresses a transcript bearing the H77C missense mutation. The mutant protein is expressed in the sarcolemma of striated muscles, (J:130252)

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 Sgca Mutation: 23 strains or lines available

References

• Original: J:130252 Kobuke K, et al., A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice. Hum Mol Genet. 2008 May 1;17(9):1201-13
• All: 1 reference(s)