Phenotypes associated with this allele

• Allele Symbol: Dysf^prmd
• Allele Name: progressive muscular dystrophy
• Allele ID: MGI:3055150
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dysf^prmd/Dysf^prmd	A/J	MGI:3055667
cn2	Dysf^prmd/Dysf^prmd	involves: 129 * A/J * C57BL/6	MGI:7545149
cx3	Dysf^prmd/Dysf^prmd Hprt1^tm2(CAG-Myof)Isrd/Y	involves: 129 * A/J * C57BL/6	MGI:5438018
cx4	Dysf^prmd/Dysf^prmd Hprt1^tm2(CAG-Myof)Isrd/Hprt1^tm2(CAG-Myof)Isrd	involves: 129 * A/J * C57BL/6	MGI:5438019
cx5	Dysf^prmd/Dysf^prmd Elmo2^tm2.1Jfco/Elmo2^tm2.1Jfco	involves: 129 * A/J * C57BL/6	MGI:7545148

Genotype
MGI:3055667

hm1

• Allelic Composition: Dysf^prmd/Dysf^prmd
• Genetic Background: A/J

• ♀: 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

• eventually, active myopathy was seen in all skeletal muscles

abnormal skeletal muscle fiber morphology ( J:92838 )

• abnormalities primarily in proximal muscles at early ages

• hypertrophic fibers, fiber splitting and fat replacement also seen

centrally nucleated skeletal muscle fibers ( J:92838 )

skeletal muscle fiber degeneration ( J:92838 )

• fibers with scattered degenerating and regenerating fibers by 4-5 months of age

skeletal muscle fiber necrosis ( J:92838 )

• increased numbers of necrotic and regenerating fibers with time

skeletal muscle endomysial fibrosis ( J:92838 )

• endomysial fibrosis at later stages

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

Genotype
MGI:7545149

cn2

• Allelic Composition: Dysf^prmd/Dysf^prmd
• Genetic Background: involves: 129 * A/J * C57BL/6

muscle

impaired skeletal muscle regeneration ( J:331473 )

• following cardiotoxin-induced injury with small muscle fibers and increased centrally located nuclei, necrotic myofibers, and fatty acid deposits

Genotype
MGI:5438018

cx3

• Allelic Composition: Dysf^prmd/Dysf^prmd; Hprt1^{tm2(CAG-Myof)Isrd}/Y
• Genetic Background: involves: 129 * A/J * C57BL/6

muscle

muscle phenotype ( J:187293 )

♂N • after laser wounding, mice exhibit restored sarcolemmal repair in muscles

dystrophic muscle ( J:187293 )

♂ • as in Dysf^prmd homozygotes

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:187293 )

♂N • after laser wounding, mice exhibit restored sarcolemmal repair in muscles

Genotype
MGI:5438019

cx4

• Allelic Composition: Dysf^prmd/Dysf^prmd; Hprt1^{tm2(CAG-Myof)Isrd}/Hprt1^{tm2(CAG-Myof)Isrd}
• Genetic Background: involves: 129 * A/J * C57BL/6

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:187293 )

♀N • after laser wounding, mice exhibit restored sarcolemmal repair in muscles

muscle

muscle phenotype ( J:187293 )

♀N • after laser wounding, mice exhibit restored sarcolemmal repair in muscles

dystrophic muscle ( J:187293 )

♀ • as in Dysf^prmd homozygotes

Genotype
MGI:7545148

cx5

• Allelic Composition: Dysf^prmd/Dysf^prmd; Elmo2^tm2.1Jfco/Elmo2^tm2.1Jfco
• Genetic Background: involves: 129 * A/J * C57BL/6

muscle

muscle phenotype ( J:331473 )

N • mice exhibit restored muscle regeneration following cardiotoxin-induced injury compared with Dysf^prmd homozygotes