About   Help   FAQ
Targeted Allele Detail
Symbol: Destm1Cap
Name: desmin; targeted mutation 1, Yassemi Capetanaki
MGI ID: MGI:2178321
Synonyms: desm1
Gene: Des  Location: Chr1:75360329-75368579 bp, + strand  Genetic Position: Chr1, 38.85 cM, cytoband C3
Myocardium degeneration and calcification in Destm1Cap/Destm1Cap mice

Show the 8 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:35123
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 11 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Des Mutation:  21 strains or lines available
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
All:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory