Phenotypes Associated with This Genotype

Genotype
MGI:3607259

• Allelic Composition: Large1^myd/Large1^myd
• Genetic Background: B6C3Fe a/a-Large1^myd/J

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

muscle

abnormal myocardium layer morphology ( J:169951 )

• focal interstitial myocardial collagen deposition is seen at 10 months of age, indicating cardiac remodeling that occurs following myocardial damage

abnormal myocardial fiber morphology ( J:169951 )

• mutants exhibit focal patches of cardiac myocyte membrane damage

myositis ( J:27793 )

• accompanies skeletal muscle fiber necrosis

abnormal skeletal muscle fiber morphology ( J:27793 )

increased variability of skeletal muscle fiber size ( J:27793 )

• both fast and slow muscle fiber types show increased size variation

centrally nucleated skeletal muscle fibers ( J:27793 )

skeletal muscle fiber degeneration ( J:27793 )

• many degenerating and regenerating fibers

• foci of degeneration are typically large, irregularly shaped and involve 20-50 necrotic fibers

skeletal muscle fiber necrosis ( J:27793 )

• in addition to foci of 20-50 necrotic fibers, individual or smaller groups of necrotic fibers are also seen

calcified muscle ( J:27793 )

• dystrophic calcification is seen ion areas of skeletal muscle necrosis

dystrophic muscle ( J:144746 )

immune system

myositis ( J:27793 )

• accompanies skeletal muscle fiber necrosis

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:27793 )

• prolonged I-IV interpeak latencies

• decreased wave IV amplitude

• mean wave IV threshold increased

sensorineural hearing loss ( J:27793 )

cardiovascular system

abnormal myocardium layer morphology ( J:169951 )

• focal interstitial myocardial collagen deposition is seen at 10 months of age, indicating cardiac remodeling that occurs following myocardial damage

abnormal myocardial fiber morphology ( J:169951 )

• mutants exhibit focal patches of cardiac myocyte membrane damage

homeostasis/metabolism

increased circulating creatine kinase level ( J:27793 )

• affected animals have an elevated serum CK range compared to controls

abnormal enzyme/coenzyme activity ( J:144746 )

• mice exhibit hypoglycosylation of almost all alpha-dystroglycan compared to in wild-type mice

• laminin-binding activity of alpha-dystroglycan is less than 5% of normal

behavior/neurological

limb grasping ( J:27793 )

• homozygous mice tightly adduct the hindlimbs and curl toes when suspended by the tail

abnormal gait ( J:27793 )

• variable severity at 3 weeks of age; some exhibit gait abnormalities and others could not be identified by this observation

growth/size/body

decreased body size ( J:27793 )

• variable severity at 3 weeks of age; some are clearly smaller and others could not be identified by size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:27793