Phenotypes Associated with This Genotype

Genotype
MGI:5523475

• Allelic Composition: Tg(DMWD,DMPK*,SIX5)1177Ggo/Tg(DMWD,DMPK*,SIX5)1177Ggo
• Genetic Background: involves: C57BL/6 * DBA/2

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

growth/size/body

decreased body size ( J:73187 )

• some mutants carrying about 362 CTG repeats on both alleles exhibit lower body weight

muscle

increased variability of skeletal muscle fiber size ( J:73187 )

• heterogeneity in the diameter of muscle fibers is seen in mutants carrying about 362 CTG repeats on both alleles

impaired muscle relaxation ( J:73187 )

• myotonia is seen in mutants carrying about 362 CTG repeats on both alleles, preferentially in the extensor muscles of the fore legs

• however, pinch-evoked muscle activity is similar to controls

nervous system

abnormal brain morphology ( J:73187 )

• mutants carrying about 362 CTG repeats on both alleles show a change in tau protein isoform production in the brains, with the higher molecular weight tau isoform barely detectable

craniofacial

craniofacial phenotype ( J:73187 )

N • mutants carrying about 362 CTG repeats on both alleles rarely exhibit crossed teeth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic dystrophy type 1		DOID:11722	OMIM:160900	J:73187