Phenotypes Associated with This Genotype

Genotype
MGI:3763917

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

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

muscle

abnormal muscle fiber morphology ( J:64493 )

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

• mice exhibit a moderate increase in central nuclei and rare necrotic fibers

abnormal muscle electrophysiology ( J:125885 )

• at 18 to 20 days of age, mice exhibit robust myotonic discharges

impaired muscle relaxation ( J:64493 )

• 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

• 6 of 6 mice display myotonia

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