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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dysfim
inflammatory myopathy
MGI:1857883
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dysfim/Dysfim involves: SJL MGI:2175836
cx2
Dysfim/Dysfim
Fktntm1Ttd/Fktntm2(FCMD)Ttd
involves: 129S7/SvEvBrd * C57BL/6 * SJL/J MGI:5700212
cx3
Dysfim/Dysf+
Fktntm1Ttd/Fktntm2(FCMD)Ttd
involves: 129S7/SvEvBrd * C57BL/6 * SJL/J MGI:5700213
cx4
Dysfim/Dysfim
Fktntm2(FCMD)Ttd/Fktn+
involves: C57BL/6 * SJL/J MGI:5700214
cx5
Dysfim/Dysf+
Large1myd/Large1myd
involves: C57BL/6 * SJL/J MGI:5700215
cx6
Dysfim/Dysfim
Large1myd/Large1myd
involves: C57BL/6 * SJL/J MGI:5700216


Genotype
MGI:2175836
hm1
Allelic
Composition
Dysfim/Dysfim
Genetic
Background
involves: SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• changes apparent from 3 weeks of age
• detectable by 3 weeks of age




Genotype
MGI:5700212
cx2
Allelic
Composition
Dysfim/Dysfim
Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
Fktntm1Ttd mutation (0 available); any Fktn mutation (20 available)
Fktntm2(FCMD)Ttd mutation (0 available); any Fktn mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• macrophage infiltration is increased in skeletal muscle compared to mice homozygous for Dysfim and heterozygous for Fktntm2(FCMD)Ttd
• increases of connective tissue infiltrations in skeletal muscles
• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility
• 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 Dysfim and heterozygous for Fktntm2(FCMD)Ttd, indicating more frequent cycles of muscle cell degeneration and regeneration
• the proportion of fibers with centrally located nuclei increases with age
• at 15 and 30 weeks of age, but not at 8 weeks, mutants show more frequent cycles of muscle cell degeneration and regeneration
• fibrotic area is increased in skeletal muscle
• mice show further progressed and more severe dystrophic features than mice homozygous for Dysfim and heterozygous for Fktntm2(FCMD)Ttd in quadriceps, gastrocnemius, and tibialis anterior muscles

immune system
• macrophage infiltration is increased in skeletal muscle compared to mice homozygous for Dysfim and heterozygous for Fktntm2(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
Dysfim/Dysf+
Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
Fktntm1Ttd mutation (0 available); any Fktn mutation (20 available)
Fktntm2(FCMD)Ttd mutation (0 available); any Fktn mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice do not show any obvious features of muscular dystrophy




Genotype
MGI:5700214
cx4
Allelic
Composition
Dysfim/Dysfim
Fktntm2(FCMD)Ttd/Fktn+
Genetic
Background
involves: C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
Fktntm2(FCMD)Ttd mutation (0 available); any Fktn mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

muscle
• albumin-positive myofibers are only sparsely seen in skeletal muscles indicating latent membrane fragility
• mice show mild dystrophic changes such as the presence of necrotic fibers and centrally located nuclei




Genotype
MGI:5700215
cx5
Allelic
Composition
Dysfim/Dysf+
Large1myd/Large1myd
Genetic
Background
involves: C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
Large1myd mutation (3 available); any Large1 mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

muscle
• macrophage infiltration is increased in skeletal muscle
• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility
• some mice show variation in fiber size and connective tissue infiltration
• mice show necrotic and centrally located nucleated myofibers, indicating frequent cycles of muscle degeneration and regeneration
• some mice show advanced muscular dystrophic changes such as variation in fiber size and connective tissue infiltration

immune system
• macrophage infiltration is increased in skeletal muscle




Genotype
MGI:5700216
cx6
Allelic
Composition
Dysfim/Dysfim
Large1myd/Large1myd
Genetic
Background
involves: C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysfim mutation (3 available); any Dysf mutation (128 available)
Large1myd mutation (3 available); any Large1 mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• macrophage infiltration is increased in skeletal muscle
• albumin-positive myofibers are increased in skeletal muscle indicating deterioration of the myofiber membrane fragility
• mice show severe muscle pathology, including marked variation in fiber size and large areas with connective tissue infiltration

immune system
• macrophage infiltration is increased in skeletal muscle





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory