Phenotypes Associated with This Genotype

Genotype
MGI:5514353

• Allelic Composition: Fktn^tm3.1Ttd/Fktn^tm3.1Ttd; Myf5^tm3(cre)Sor/Myf5⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

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

mortality/aging

premature death ( J:198535 )

• most mice die by 6 months

muscle

abnormal muscle precursor cell morphology ( J:198535 )

• adult mice exhibit fewer muscle progenitor cells compared with control mice

increased collagen deposition in the muscles ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues collagen accumulation

increased variability of skeletal muscle fiber size ( J:198535 )

• at 16 weeks

centrally nucleated skeletal muscle fibers ( J:198535 )

• at 4, 8 and 16 weeks

• however, infection with an Fktn-expressing adenovirus rescues nucleus localization

decreased skeletal muscle weight ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues muscle weight

skeletal muscle atrophy ( J:198535 )

• severe in some mice treated with cardiotoxin

decreased satellite cell number ( J:198535 )

• at 16 weeks, but not in young mice

skeletal muscle fibrosis ( J:198535 )

• at 16 weeks

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 16 weeks

abnormal muscle precursor cell physiology ( J:198535 )

• adult mice exhibit impaired muscle progenitor cell viability compared with control mice

impaired skeletal muscle regeneration ( J:198535 )

• after cardiotoxin treatment, mice exhibit reduced regenerative capacity in TA muscles with increased smaller regenerating fibers compared with control mice

• however, infection with an Fktn-expressing adenovirus rescues regeneration

growth/size/body

decreased body weight ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues body weight

postnatal growth retardation ( J:198535 )

• after 2 weeks of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:198535 )

• at 4, 8 and 16 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:198535