Phenotypes Associated with This Genotype

Genotype
MGI:2176879

• Allelic Composition: Dmd^mdx/Dmd^mdx; Utrn^tm1Ked/Utrn^tm1Ked
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA

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

mortality/aging

premature death ( J:42388 )

♀ • all succumb to premature death by 20 weeks of age

behavior/neurological

abnormal posture ( J:42388 )

♀ • slack posture by 4 to 6 weeks of age

abnormal gait ( J:42388 )

♀ • waddling gait

decreased locomotor activity ( J:42388 )

♀ • decrease in mobility and abnormal field behavior by 4 to 6 weeks of age

growth/size/body

weight loss ( J:42388 )

♀

muscle

skeletal muscle necrosis ( J:42388 )

♀

abnormal skeletal muscle fiber morphology ( J:42388 )

♀ • muscle fibers are irregularly shaped and sized, many with centralized nuclei and some lymphocyte infiltration

♀ • some fibers contain fat or appear to be replaced by adipose cells

abnormal skeletal muscle fiber size ( J:42388 )

♀

centrally nucleated skeletal muscle fibers ( J:42388 )

♀

skeletal muscle interstitial fibrosis ( J:42388 )

♀

dystrophic muscle ( J:42388 )

♀ • muscular dystrophy begins at 6 days of age and becomes severe by 10 weeks of age, earlier than in single Dmd mutants

progressive muscle weakness ( J:42388 )

♀

respiratory system

abnormal breathing pattern ( J:42388 )

♀ • exhibit abnormal breathing by 4 to 6 weeks of age

skeleton

kyphosis ( J:42388 )

♀

nervous system

abnormal neuromuscular synapse morphology ( J:42388 )

♀ • postsynaptic endplate regions exhibit a virtual absence of junctional folding at the postsynaptic membrane

♀ • about 40% decrease in acetylcholine receptors at the synapse

limbs/digits/tail

abnormal hindlimb morphology ( J:42388 )

♀ • abnormally postured hindlimbs with joint contractures

cellular

skeletal muscle necrosis ( J:42388 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:42388