Allele Symbol Allele Name Allele ID |
Fktntm1Kcam targeted mutation 1, Kevin P Campbell MGI:5435571 |
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Summary |
4 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 11% die before 20 weeks of age even with special feeding
• remainder are dead or euthanized by 35 weeks
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• significantly under weight
• combined gastrocnemius and soleus weight is low
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• moderate to severe dystrophic features in the iliopsoas muscle at 20 weeks
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• elevated at 4 and 8 weeks
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• forelimb grip strength is reduced
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Fukuyama congenital muscular dystrophy | DOID:0050559 |
OMIM:253800 |
J:187144 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• iliopsoas muscle from mice treated with tamoxifen show indications of dystrophic disease
• variations in fiber size
• necrosis
• increase in centrally nucleated fibers
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• levels begin to rise at 14 weeks of age and are significantly elevated at 16-20 weeks after tamoxifen treatment at 10 weeks of age
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N |
• normal body weight at 4- 20 weeks of age after tamoxifen treatment
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N |
• normal forelimb grip strength at 4-20 weeks of age after tampxifen treatment
• normal open field activity at 4-20 weeks of age after tampxifen treatment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Fukuyama congenital muscular dystrophy | DOID:0050559 |
OMIM:253800 |
J:187144 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• signs of dystrophic disease at 12 weeks of age
• central nucleation in muscle fibers
• variable fiber size
• hypercontracted fibers
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• elevated serum creatine kinase at 12 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Fukuyama congenital muscular dystrophy | DOID:0050559 |
OMIM:253800 |
J:187144 |
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 12/17/2024 MGI 6.24 |
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