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Phenotypes Associated with This Genotype
Genotype
MGI:2659043
Allelic
Composition
Capn3tm1Jsb/Capn3tm1Jsb
Genetic
Background
either: 129/Sv-Capn3tm1Jsb or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capn3tm1Jsb mutation (0 available); any Capn3 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Dystrophic muscle in Capn3tm1Jsb/Capn3tm1Jsb mice

muscle
• disruption of sarcolemmal integrity
• mutants develop a progressive mild muscular dystrophy
• most severly affects the psoas, soleus, and deltoid muscles
• Background Sensitivity: dystrophic muscle is evident at 2 months of a age in mutants on a 129/Sv background while it becomes evident in mutants on a mixed 129/Sv and C57BL/6 at 6 months of age
• myofibers exhibit an increase in apoptosis

reproductive system
• transmission ratio distortion, preferred transmission of mutant allele

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2A DOID:0110275 OMIM:253600
J:66862


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
03/12/2024
MGI 6.23
The Jackson Laboratory