Phenotypes Associated with This Genotype

Genotype
MGI:5523467

• Allelic Composition: Tg(DMWD,DMPK*,SIX5)328Ggo/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

craniofacial

abnormal tooth morphology ( J:73187 )

• most mutants with about 300 CTG repeats develop abnormal teeth exhibiting crossed teeth

growth/size/body

abnormal tooth morphology ( J:73187 )

• most mutants with about 300 CTG repeats develop abnormal teeth exhibiting crossed teeth

decreased body size ( J:73187 )

• 5% of mutants with about 300 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

decreased body weight ( J:73187 )

• weight at weaning is 50-70% that of controls in 5% of mutants with about 300 CTG repeats

muscle

abnormal skeletal muscle fiber morphology ( J:73187 )

• infiltration of fatty tissue into muscle is seen in mutants with about 300 CTG repeats

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

• heterogeneity in the diameter of muscle fibers is seen in mutants with about 300 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 300 CTG repeats

skeletal muscle fibrosis ( J:73187 )

• muscle fibrosis in mutants with about 300 CTG repeats

impaired muscle relaxation ( J:73187 )

• myotonia is seen in mutants with about 300 CTG repeats, preferentially in the extensor muscles of the fore legs

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

reproductive system

reproductive system phenotype ( J:73187 )

N • mean litter size is close to normal in mice with about 300 CTG repeats

skeleton

abnormal tooth morphology ( J:73187 )

• most mutants with about 300 CTG repeats develop abnormal teeth exhibiting crossed teeth