Phenotypes Associated with This Genotype

Genotype
MGI:5700212

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

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

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