Phenotypes associated with this allele

• Allele Symbol: Dysf^im
• Allele Name: inflammatory myopathy
• Allele ID: MGI:1857883
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dysf^im/Dysf^im	involves: SJL	MGI:2175836
cx2	Dysf^im/Dysf^im Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd	involves: 129S7/SvEvBrd * C57BL/6 * SJL/J	MGI:5700212
cx3	Dysf^im/Dysf^+ Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd	involves: 129S7/SvEvBrd * C57BL/6 * SJL/J	MGI:5700213
cx4	Dysf^im/Dysf^im Fktn^tm2(FCMD)Ttd/Fktn^+	involves: C57BL/6 * SJL/J	MGI:5700214
cx5	Dysf^im/Dysf^+ Large1^myd/Large1^myd	involves: C57BL/6 * SJL/J	MGI:5700215
cx6	Dysf^im/Dysf^im Large1^myd/Large1^myd	involves: C57BL/6 * SJL/J	MGI:5700216

Genotype
MGI:2175836

hm1

• Allelic Composition: Dysf^im/Dysf^im
• Genetic Background: involves: SJL

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

muscle

dystrophic muscle ( J:57764 )

• changes apparent from 3 weeks of age

progressive muscle weakness ( J:57764 )

• detectable by 3 weeks of age

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:57764
distal myopathy		DOID:11720	OMIM:PS160500	J:57764

Genotype
MGI:5700212

cx2

• Allelic Composition: Dysf^im/Dysf^im; Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

muscle

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle compared to mice homozygous for Dysf^im and heterozygous for Fktn^tm2(FCMD)Ttd

abnormal skeletal muscle morphology ( J:221523 )

• increases of connective tissue infiltrations in skeletal muscles

abnormal skeletal muscle fiber morphology ( J:221523 )

• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility

centrally nucleated skeletal muscle fibers ( J:221523 )

• at 15 weeks and 30 weeks of age, but not at 8 weeks, mutants show significantly more fibers with centrally located nuclei than do mice homozygous for Dysf^im and heterozygous for Fktn^tm2(FCMD)Ttd, indicating more frequent cycles of muscle cell degeneration and regeneration

• the proportion of fibers with centrally located nuclei increases with age

skeletal muscle fiber degeneration ( J:221523 )

• at 15 and 30 weeks of age, but not at 8 weeks, mutants show more frequent cycles of muscle cell degeneration and regeneration

skeletal muscle fibrosis ( J:221523 )

• fibrotic area is increased in skeletal muscle

dystrophic muscle ( J:221523 )

• mice show further progressed and more severe dystrophic features than mice homozygous for Dysf^im and heterozygous for Fktn^tm2(FCMD)Ttd in quadriceps, gastrocnemius, and tibialis anterior muscles

immune system

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle compared to mice homozygous for Dysf^im and heterozygous for Fktn^tm2(FCMD)Ttd

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:221523

Genotype
MGI:5700213

cx3

• Allelic Composition: Dysf^im/Dysf⁺; Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

muscle

muscle phenotype ( J:221523 )

N • mice do not show any obvious features of muscular dystrophy

Genotype
MGI:5700214

cx4

• Allelic Composition: Dysf^im/Dysf^im; Fktn^tm2(FCMD)Ttd/Fktn⁺
• Genetic Background: involves: C57BL/6 * SJL/J

muscle

abnormal skeletal muscle fiber morphology ( J:221523 )

• albumin-positive myofibers are only sparsely seen in skeletal muscles indicating latent membrane fragility

skeletal muscle fiber necrosis ( J:221523 )

centrally nucleated skeletal muscle fibers ( J:221523 )

dystrophic muscle ( J:221523 )

• mice show mild dystrophic changes such as the presence of necrotic fibers and centrally located nuclei

cellular

skeletal muscle fiber necrosis ( J:221523 )

Genotype
MGI:5700215

cx5

• Allelic Composition: Dysf^im/Dysf⁺; Large1^myd/Large1^myd
• Genetic Background: involves: C57BL/6 * SJL/J

muscle

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle

abnormal skeletal muscle fiber morphology ( J:221523 )

• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility

skeletal muscle fiber necrosis ( J:221523 )

increased variability of skeletal muscle fiber size ( J:221523 )

• some mice show variation in fiber size and connective tissue infiltration

centrally nucleated skeletal muscle fibers ( J:221523 )

skeletal muscle fiber degeneration ( J:221523 )

• mice show necrotic and centrally located nucleated myofibers, indicating frequent cycles of muscle degeneration and regeneration

dystrophic muscle ( J:221523 )

• some mice show advanced muscular dystrophic changes such as variation in fiber size and connective tissue infiltration

immune system

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle

cellular

skeletal muscle fiber necrosis ( J:221523 )

Genotype
MGI:5700216

cx6

• Allelic Composition: Dysf^im/Dysf^im; Large1^myd/Large1^myd
• Genetic Background: involves: C57BL/6 * SJL/J

muscle

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle

abnormal skeletal muscle fiber morphology ( J:221523 )

• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility

increased variability of skeletal muscle fiber size ( J:221523 )

dystrophic muscle ( J:221523 )

• mice show severe muscle pathology, including marked variation in fiber size and large areas with connective tissue infiltration

immune system

myositis ( J:221523 )

• macrophage infiltration is increased in skeletal muscle