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Phenotypes Associated with This Genotype
Genotype
MGI:5700212
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 (114 available)
Fktntm1Ttd mutation (0 available); any Fktn mutation (17 available)
Fktntm2(FCMD)Ttd mutation (0 available); any Fktn mutation (17 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


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
10/10/2017
MGI 6.10
The Jackson Laboratory