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

Symbol:	Sgcatm1Isrd
Name:	sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 1, Isabelle Richard
MGI ID:	MGI:3784951
Synonyms:	Sgca77C, SgcaH77C
Gene:	Sgca  Location: Chr11:94853617-94867153 bp, - strand  Genetic Position: Chr11, 59.01 cM, cytoband C
Alliance:	Sgcatm1Isrd page

Germline Transmission:	Earliest citation of germline transmission: J:133929
Parent Cell Line:	CK35 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 3 was replaced with an exon 3 that contained a nucleotide substitution that resulted in the amino acid substitution of cysteine for histidine at position 77 (H77C), mimicking a mutation associated with limb-girdle muscular dystrophy (LGMD2D) in human. A floxed neo cassette was inserted downstream of exon 3 and was subsequently removed by germ-line, cre-mediated recombination. (J:133929)

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:133929 Bartoli M, et al., Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet. 2008 May 1;17(9):1214-21
All:	1 reference(s)