Phenotypes Associated with This Genotype

Genotype
MGI:2176891

• Allelic Composition: Dmd^mdx/Y; Dtna^tm1Jrs/Dtna^tm1Jrs; Utrn^tm1Jrs/Utrn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn

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

mortality/aging

premature death ( J:59675 )

♂ • lifespan is 3-11 weeks

postnatal lethality, incomplete penetrance ( J:59675 )

♂ • 3 of 11 die before weaning

growth/size/body

postnatal growth retardation ( J:59675 )

♂ • exhibit poor growth

muscle

cardiomyopathy ( J:59675 )

♂ • develop a moderate to severe cardiomyopathy similar to that of double mutant Utrn^tm1Jrs and Dmd^mdx mice

skeletal muscle necrosis ( J:59675 )

♂

dystrophic muscle ( J:59675 )

♂ • develop severe skeletal dystrophy, however muscles are no more dystrophic than muscles of double Utrn^tm1Jrs and Dmd^mdx mutant mice

cardiovascular system

cardiomyopathy ( J:59675 )

♂ • develop a moderate to severe cardiomyopathy similar to that of double mutant Utrn^tm1Jrs and Dmd^mdx mice

skeleton

kyphosis ( J:59675 )

♂

limbs/digits/tail

abnormal limb morphology ( J:59675 )

♂ • severe limb contractures

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

♂ • distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:59675