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Phenotypes Associated with This Genotype
Genotype
MGI:3607259
Allelic
Composition
Largemyd/Largemyd
Genetic
Background
B6C3Fe a/a-Largemyd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Largemyd mutation (3 available); any Large mutation (92 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mutants exhibit focal patches of cardiac myocyte membrane damage (J:169951)
• mutants exhibit focal patches of cardiac myocyte membrane damage (J:169951)
• accompanies skeletal muscle fiber necrosis (J:27793)
• accompanies skeletal muscle fiber necrosis (J:27793)
• both fast and slow muscle fiber types show increased size variation (J:27793)
• both fast and slow muscle fiber types show increased size variation (J:27793)
• many degenerating and regenerating fibers (J:27793)
• foci of degeneration are typically large, irregularly shaped and involve 20-50 necrotic fibers (J:27793)
• many degenerating and regenerating fibers (J:27793)
• foci of degeneration are typically large, irregularly shaped and involve 20-50 necrotic fibers (J:27793)
• in addition to foci of 20-50 necrotic fibers, individual or smaller groups of necrotic fibers are also seen (J:27793)
• in addition to foci of 20-50 necrotic fibers, individual or smaller groups of necrotic fibers are also seen (J:27793)
• dystrophic calcification is seen ion areas of skeletal muscle necrosis (J:27793)
• dystrophic calcification is seen ion areas of skeletal muscle necrosis (J:27793)

immune system
• accompanies skeletal muscle fiber necrosis (J:27793)
• accompanies skeletal muscle fiber necrosis (J:27793)

hearing/vestibular/ear
• prolonged I-IV interpeak latencies (J:27793)
• decreased wave IV amplitude (J:27793)
• mean wave IV threshold increased (J:27793)
• prolonged I-IV interpeak latencies (J:27793)
• decreased wave IV amplitude (J:27793)
• mean wave IV threshold increased (J:27793)

cardiovascular system
• focal interstitial myocardial collagen deposition is seen at 10 months of age, indicating cardiac remodeling that occurs following myocardial damage (J:169951)
• focal interstitial myocardial collagen deposition is seen at 10 months of age, indicating cardiac remodeling that occurs following myocardial damage (J:169951)
• mutants exhibit focal patches of cardiac myocyte membrane damage (J:169951)
• mutants exhibit focal patches of cardiac myocyte membrane damage (J:169951)

homeostasis/metabolism
• affected animals have an elevated serum CK range compared to controls (J:27793)
• affected animals have an elevated serum CK range compared to controls (J:27793)
• mice exhibit hypoglycosylation of almost all alpha-dystroglycan compared to in wild-type mice (J:144746)
• laminin-binding activity of alpha-dystroglycan is less than 5% of normal (J:144746)
• mice exhibit hypoglycosylation of almost all alpha-dystroglycan compared to in wild-type mice (J:144746)
• laminin-binding activity of alpha-dystroglycan is less than 5% of normal (J:144746)

behavior/neurological
• homozygous mice tightly adduct the hindlimbs and curl toes when suspended by the tail (J:27793)
• homozygous mice tightly adduct the hindlimbs and curl toes when suspended by the tail (J:27793)
• variable severity at 3 weeks of age; some exhibit gait abnormalities and others could not be identified by this observation (J:27793)
• variable severity at 3 weeks of age; some exhibit gait abnormalities and others could not be identified by this observation (J:27793)

growth/size/body
• variable severity at 3 weeks of age; some are clearly smaller and others could not be identified by size (J:27793)
• variable severity at 3 weeks of age; some are clearly smaller and others could not be identified by size (J:27793)

Mouse Models of Human Disease
OMIM ID Ref(s)
Facioscapulohumeral Muscular Dystrophy 1; FSHD1 158900 J:27793


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory