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Phenotypes Associated with This Genotype
Genotype
MGI:5523472
Allelic
Composition
Tg(DMWD,DMPK*,SIX5)1177Ggo/0
Genetic
Background
involves: C57BL/6 * DBA/2
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No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• abnormalities in mitochondrial morphology, including increased size and number in the muscle in mice with about 362 CTG repeats
• abnormalities in mitochondrial morphology, including increased size and number in the muscle in mice with about 362 CTG repeats

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

growth/size/body
• most mutants with about 362 CTG repeats develop abnormal teeth exhibiting crossed teeth
• 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
• infiltration of fatty tissue into muscle in mutants with about 362 CTG repeats
• heterogeneity in the diameter of muscle fibers is seen in mutants with about 362 CTG repeats
• large numbers of centronucleated muscle fibers in the soleus and sternomastoid muscles are seen in mutants with about 362 CTG repeats
• focal muscle degeneration and regeneration in mutants with about 362 CTG repeats
• muscle fibrosis in mutants with about 362 CTG repeats
• 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
• mean litter size is lower (4/litter vs. 6.2/litter in controls) with about 362 CTG repeats

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory