|
|
| Nomenclature |
|
Symbol:
|
Sspntm1Kcam
|
|
Name:
|
sarcospan;
targeted mutation 1, Kevin P Campbell
|
|
MGI ID: |
MGI:2387936 |
|
Gene:
|
Sspn
Location:
Chr6:145931641-145965223 bp, + strand
Genetic Position: Chr6,
77.7 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:60294
|
|
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: The gene was disrupted by replacement of exons 2 and 3 with a PGK-neo cassette resulting in deletion of sequences encoding 3 of 4 transmembrane domains, the extracellular loop, and the C-terminal intracellular domain. Absence of gene expression in homozygous animals was demonstrated by Northern blot analysis of skeletal muscle RNA. Western blot analysis of skeletal muscle microsomes, and immunofluorescence analysis of smooth muscle cells from the small intestines further confirmed the absence of encoded protein in homozygous animals. (J:60294)
|
|
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:60294
Lebakken CS et al.,
"Sarcospan-deficient mice maintain normal muscle function."
Mol Cell Biol 2000 Mar;20(5):1669-77
|
|
All: |
4 reference(s)
|
|