mortality/aging
• mice die within 24 hours of birth
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Allele Symbol Allele Name Allele ID |
Acvr1tm1Emsh targeted mutation 1, Eileen M Shore MGI:5471642 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice die within 24 hours of birth
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
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• short broad femoral neck
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• short broad femoral neck
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• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
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• commonly in the proximal medial tibias, but also in the humerus and femur
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• some mice exhibit fusion of the posterior facet joints of the subaxial cervical vertebrae
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• malformation of costovertebral joints and ribs
• early degenerative joint disease
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• malformation of costovertebral joints
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• fusion of thoracic and lumbar vertebrae
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• in skeletal muscles
• cardiotoxin-induced skeletal muscle injury triggers heterotropic ossification
• extraskeletal bone formation occurs by an endochondral process
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• ankylosed joints at 6 to 8 weeks
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• in degenerating muscle and connective tissue with abundant immune cell infiltration prior to ossified lesion formation
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• inflammatory response followed by fibroproliferation in degenerating muscle and connective tissue
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• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
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• short broad femoral neck
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• short broad femoral neck
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• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
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• due to apoptosis and possibly some necrosis
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• at 6 to 8 weeks, most mice exhibit severe physical disability with limited mobility and difficulty in movement
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• commonly in the proximal medial tibias, but also in the humerus and femur
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
fibrodysplasia ossificans progressiva | DOID:13374 |
OMIM:135100 |
J:194134 |
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 12/10/2024 MGI 6.24 |
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