Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Sgcatm2.1Kcam
Name:	sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 2.1, Kevin P Campbell
MGI ID:	MGI:3772335
Synonyms:	H77C/H77C, SgcaH77C/H77C
Gene:	Sgca  Location: Chr11:94853617-94867153 bp, - strand  Genetic Position: Chr11, 59.01 cM, cytoband C
Alliance:	Sgcatm2.1Kcam page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	26 strains or lines available

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)