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

Symbol:	Sgcatm2Kcam
Name:	sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 2, Kevin P Campbell
MGI ID:	MGI:3772334
Gene:	Sgca  Location: Chr11:94853617-94867153 bp, - strand  Genetic Position: Chr11, 59.01 cM, cytoband C
Alliance:	Sgcatm2Kcam page

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

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A targeting vector was designed to introduce an H77C (TGC->CAC) missense substitution in exon 3, and place a loxP-flanked pgk-neomycin resistance cassette (in opposite transcriptional orientation) into intron 3 of the gene. Alpha-sarcoglycan mRNA is not detected by RT-PCR, and protein is not detected by Western blot or immunofluorescence staining of skeletal muscle. (J:130252)

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain 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:	3 reference(s)