Phenotypes Associated with This Genotype

Genotype
MGI:5427874

• Allelic Composition: Tg(Ckm-CUGBP1)1039Coop/0
• Genetic Background: FVB-Tg(Ckm-CUGBP1)1039Coop

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

mortality/aging

perinatal lethality ( J:99370 )

• dead at birth; pups are normal is size but are stillborn

muscle

abnormal skeletal muscle fiber morphology ( J:99370 )

• skeletal muscle exhibits chains of central nuclei and degenerating fibers, as well as increased central accumulation of NADH activity and acid phosphatase reactivity

• mutants exhibit increased number of internal nuclei in individual myofibers

skeletal muscle fiber degeneration ( J:99370 )

• irregularly shaped nuclei, centrally located nuclear chains and degeneration of myofibers

• mutant mice have disrupted splicing of Mtmr1, Clcn1, and Tnnt2 in heart and skeletal muscle tissue reproducing the splicing pattern seen in myotonic dystrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic dystrophy type 1		DOID:11722	OMIM:160900	J:99370