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Targeted Allele Detail
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
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 detailsA 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 structures
Find Mice (IMSR)
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:  20 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
The Jackson Laboratory