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Destm1Cba
Targeted Allele Detail
Nomenclature
Symbol: Destm1Cba
Name: desmin; targeted mutation 1, Charles Babinet
MGI ID: MGI:2159584
Synonyms: Des-, DES-KO, DeslacZ
Gene: Des  Location: Chr1:75360329-75368579 bp, + strand  Genetic Position: Chr1, 38.85 cM, cytoband C3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:32928
Parent Cell Line:  CK35 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsIn frame insertion of a lacZ-PGK-neomycin resistance cassette into exon 1 disrupted the gene. Northern blot analyses of skeletal muscle using a 3' exon 1 cDNA probe and using an exon 4-9 cDNA probe did not detect transcript in homozygous mutant mice. Western blot analysis did not detect protein in limb muscle from homozygous mutant mice. Immunocytochemical studies of skeletal, smooth, and cardiac muscle did not detect protein in homozygous mutant mice. (J:32928)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 8 assay results
In Structures Affected by this Mutation: 7 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 Des Mutation:  22 strains or lines available
References
Original:  J:32928 Li Z, et al., Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol. 1996 May 1;175(2):362-6
All:  27 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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory