Phenotypes Associated with This Genotype

Genotype
MGI:2659043

• Allelic Composition: Capn3^tm1Jsb/Capn3^tm1Jsb
• Genetic Background: either: 129/Sv-Capn3^tm1Jsb or (involves: 129/Sv * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Dystrophic muscle in Capn3^tm1Jsb/Capn3^tm1Jsb mice

muscle

abnormal sarcolemma morphology ( J:66862 )

• disruption of sarcolemmal integrity

dystrophic muscle ( J:66862 )

• 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 ( J:66862 )

• 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