Phenotypes associated with this allele

• Allele Symbol: Tg(DMWD,DMPK*,SIX5)1177Ggo
• Allele Name: transgene insertion 1177, Genevieve Gourdon
• Allele ID: MGI:5523466
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(DMWD,DMPK*,SIX5)1177Ggo/Tg(DMWD,DMPK*,SIX5)1177Ggo	involves: C57BL/6 * DBA/2	MGI:5523475
tg2	Tg(DMWD,DMPK*,SIX5)1177Ggo/0	involves: C57BL/6 * DBA/2	MGI:5523472

Genotype
MGI:5523475

tg1

• 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

Genotype
MGI:5523472

tg2

• Allelic Composition: Tg(DMWD,DMPK*,SIX5)1177Ggo/0
• Genetic Background: involves: C57BL/6 * DBA/2

cellular

increased mitochondrial number ( J:73187 )

• abnormalities in mitochondrial morphology, including increased size and number in the muscle in mice with about 362 CTG repeats

increased mitochondrial size ( J:73187 )

• abnormalities in mitochondrial morphology, including increased size and number in the muscle in mice with about 362 CTG repeats

craniofacial

abnormal tooth morphology ( J:73187 )

• most mutants with about 362 CTG repeats develop abnormal teeth exhibiting crossed teeth

growth/size/body

abnormal tooth morphology ( J:73187 )

• most mutants with about 362 CTG repeats develop abnormal teeth exhibiting crossed teeth

decreased body size ( J:73187 )

• 2% of mutants with about 362 CTG repeats are smaller; these mice are already smaller at 2 days of age, and their weight at weaning is 50-70% that of controls

muscle

abnormal skeletal muscle fiber morphology ( J:73187 )

• infiltration of fatty tissue into muscle in mutants with about 362 CTG repeats

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

• heterogeneity in the diameter of muscle fibers is seen in mutants with about 362 CTG repeats

centrally nucleated skeletal muscle fibers ( J:73187 )

• large numbers of centronucleated muscle fibers in the soleus and sternomastoid muscles are seen in mutants with about 362 CTG repeats

skeletal muscle degeneration ( J:73187 )

• focal muscle degeneration and regeneration in mutants with about 362 CTG repeats

skeletal muscle fibrosis ( J:73187 )

• muscle fibrosis in mutants with about 362 CTG repeats

muscular atrophy ( J:73187 )

• some mice with about 362 CTG repeats show atrophy of the slow muscle fibers and an increase in the number of these fibers

reproductive system

decreased litter size ( J:73187 )

• mean litter size is lower (4/litter vs. 6.2/litter in controls) with about 362 CTG repeats

skeleton

abnormal tooth morphology ( J:73187 )

• most mutants with about 362 CTG repeats develop abnormal teeth exhibiting crossed teeth