Phenotypes Associated with This Genotype

Genotype
MGI:3763920

• Allelic Composition: Tg(HSA*LR)20aCath/?
• Genetic Background: involves: FVB/N

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

muscle

abnormal muscle fiber morphology ( J:64493 )

• mice exhibit a substantial increase in central nuclei (up to 25% of fibers), ring fibers and sarcoplasmic masses

• however, mice do not develop muscle weakness or wasting by 6 months of age

impaired muscle relaxation ( J:64493 )

• 4 of 8 mice display myotonia

• myotonia is observed as early as 4 weeks of age when muscle histology is normal

• mice exhibit abnormal hindlimb posture when they initiate movement after long periods of inactivity or when they are suspended by their tails

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic dystrophy type 1		DOID:11722	OMIM:160900	J:64493