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Sgcdtm1Kcam
Targeted Allele Detail
Summary
Symbol: Sgcdtm1Kcam
Name: sarcoglycan, delta (dystrophin-associated glycoprotein); targeted mutation 1, Kevin P Campbell
MGI ID: MGI:2154694
Gene: Sgcd  Location: Chr11:46861904-47880309 bp, - strand  Genetic Position: Chr11, 28.09 cM, cytoband B1.2
Alliance: Sgcdtm1Kcam page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:57107
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: A neomycin resistance cassette replaced exon 2, which encodes 63 amino acids of the intracellular domain and the entire transmembrane domain. Northern blot analysis revealed that a transcript lacking exon 2 sequences is produced from this allele, but no protein was detected in skeletal muscle membrane enriched preparations of homozygous mice by western blot analysis. (J:57107)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
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 Sgcd Mutation:  22 strains or lines available
References
Original:  J:57107 Coral-Vazquez R, et al., Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999 Aug 20;98(4):465-74
All:  10 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory