Phenotypes Associated with This Genotype

Genotype
MGI:4457377

• Allelic Composition: Tcap^tm1Mkc/Tcap^tm1Mkc
• Genetic Background: involves: 129 * C57BL/6

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

muscle

muscle phenotype ( J:159687 )

N • during the first 12 months, mice exhibit normal skeletal muscle growth and development

N • mice exhibit normal force and fatigue profiles in extensor digitorum longus and soleus muscles

decreased skeletal muscle fiber diameter ( J:159687 )

skeletal muscle fiber atrophy ( J:159687 )

• mice exhibit scattered small atrophic fibers with coarse basophilic inclusions and enlarged mitochondria unlike in wild-type mice

• however, mice do not exhibit endomysial fibrosis or necrotic skeletal muscle fibers

centrally nucleated skeletal muscle fibers ( J:159687 )

abnormal muscle physiology ( J:159687 )

• slow-twitch skeletal muscles exhibit increased passive stiffness compared with wild-type mice

myopathy ( J:159687 )

behavior/neurological

impaired coordination ( J:159687 )

• at 2, 3, and 4 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2G		DOID:0110281	OMIM:601954	J:159687