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| Nomenclature |
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Symbol:
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Destm1Cap
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Name:
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desmin;
targeted mutation 1, Yassemi Capetanaki
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MGI ID: |
MGI:2178321 |
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Synonyms: |
desm1 |
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Gene:
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Des
Location:
Chr1:75360329-75368579 bp, + strand
Genetic Position: Chr1,
38.85 cM, cytoband C3
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Myocardium degeneration and calcification in Destm1Cap/Destm1Cap mice
Show the 8 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:35123
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 319 bp segment at the end of exon 1 was deleted and replaced with a neomycin resistance gene. Northern blot and western blot analysis on samples derived from skeletal muscle of homozygous mice confirmed that no transcript or protein is expressed from this allele. (J:35123)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Des Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:35123
Milner DJ et al.,
"Disruption of muscle architecture and myocardial degeneration in mice lacking desmin."
J Cell Biol 1996 Sep;134(5):1255-70
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All: |
17 reference(s)
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Analysis Tools
