Phenotypes associated with this allele

• Allele Symbol: Dysf^tm1Meho
• Allele Name: targeted mutation 1, Mengfatt Ho
• Allele ID: MGI:3055139
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dysf^tm1Meho/Dysf^tm1Meho	involves: 129S4/SvJae * C57BL/6	MGI:3055578

Genotype
MGI:3055578

hm1

• Allelic Composition: Dysf^tm1Meho/Dysf^tm1Meho
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

behavior/neurological

limb grasping ( J:92838 )

• hind-limb clasping develops after 8 months of age

• inability to spread legs when suspended by their tails after 8 months of age

abnormal physical strength ( J:92838 )

muscle

abnormal skeletal muscle morphology ( J:92838 )

• perivascular infiltrates and inflammation seen by 8 months of age

abnormal skeletal muscle fiber morphology ( J:92838 )

• fibers with scattered degenerating and regenerating fibers by 2 months of age

• abnormalities primarily in proximal muscles at early ages

skeletal muscle fiber necrosis ( J:92838 )

• by 5 months of age, increased numbers of necrotic and regenerating fibers are present

increased skeletal muscle fiber size ( J:92838 )

• hypertrophic fibers, fiber splitting and fat replacement are seen at 5 months of age

centrally nucleated skeletal muscle fibers ( J:92838 )

• nuclei are centrally placed

skeletal muscle endomysial fibrosis ( J:92838 )

• endomysial fibrosis at 8 months of age

cellular

skeletal muscle fiber necrosis ( J:92838 )

• by 5 months of age, increased numbers of necrotic and regenerating fibers are present

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2B		DOID:0110276	OMIM:253601	J:92838
distal myopathy		DOID:11720	OMIM:PS160500	J:92838