Phenotypes Associated with This Genotype

Genotype
MGI:3047138

• Allelic Composition: Capn3^{Gt(OST141731)Lex}/Capn3^{Gt(OST141731)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

growth/size/body

decreased body weight ( J:91206 )

• young mutant males are smaller than wild-type

muscle

abnormal muscle morphology ( J:91206 )

abnormal gastrocnemius morphology ( J:91206 )

• the slow fiber area is reduced by about 15%

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

abnormal soleus morphology ( J:91206 )

• the fast and slow fiber areas are reduced about 28% and 21%, respectively

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

abnormal tibialis anterior morphology ( J:91206 )

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

abnormal A band morphology ( J:91206 )

• the A-bands of mutant sarcomeres are misaligned resulting in a ragged appearance

abnormal skeletal muscle fiber morphology ( J:91206 )

• abundant and disorganized mitochondria and lobulated fibers are seen

abnormal diaphragm morphology ( J:91206 )

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

decreased skeletal muscle mass ( J:91206 )

• muscle mass is reduced in mutant mice

limbs/digits/tail

abnormal gastrocnemius morphology ( J:91206 )

• the slow fiber area is reduced by about 15%

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

abnormal soleus morphology ( J:91206 )

• the fast and slow fiber areas are reduced about 28% and 21%, respectively

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

abnormal tibialis anterior morphology ( J:91206 )

• rare and small foci of necrosis and regeneration accompanied by inflammatory cells are seen

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:91206