|
|
| Nomenclature |
|
Symbol:
|
Sgcdtm1Kcam
|
|
Name:
|
sarcoglycan, delta (dystrophin-associated glycoprotein);
targeted mutation 1, Kevin P Campbell
|
|
MGI ID: |
MGI:2154694 |
|
Gene:
|
Sgcd
Location:
Chr11:46896253-47988969 bp, - strand
Genetic Position: Chr11,
28.09 cM, cytoband B1.2
|
|
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 (knock-out) |
|
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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
7 reference(s)
|
|
Analysis Tools
