Phenotypes associated with this allele

• Allele Symbol: Fktn^tm3.1Ttd
• Allele Name: targeted mutation 3.1, Tatsushi Toda
• Allele ID: MGI:5514346
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fktn^tm3.1Ttd/Fktn^tm3.1Ttd Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6	MGI:5514353
cn2	Fktn^tm3.1Ttd/Fktn^tm3.1Ttd Tg(Ckmm-cre)5Khn/0	involves: C57BL/6 * FVB	MGI:5514355

Genotype
MGI:5514353

cn1

• 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

cellular

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 16 weeks

mortality/aging

premature death ( J:198535 )

• most mice die by 6 months

muscle

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 16 weeks

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

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

Genotype
MGI:5514355

cn2

• Allelic Composition: Fktn^tm3.1Ttd/Fktn^tm3.1Ttd; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: C57BL/6 * FVB

muscle

skeletal muscle necrosis ( J:198535 )

• at 16 weeks

abnormal skeletal muscle fiber morphology ( J:198535 )

• exercised mice exhibit increased membrane-impermeable Evans blue dye uptake compared with cells from control mice

centrally nucleated skeletal muscle fibers ( J:198535 )

• at 16 weeks, increasing with age

dystrophic muscle ( J:198535 )

• at 16 weeks with myonecrosis and central nucleation

homeostasis/metabolism

increased circulating creatine kinase level ( J:198535 )

• at 16 weeks

• after forced exercise

cellular

skeletal muscle necrosis ( J:198535 )

• at 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