|
Symbol Name ID |
Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1 MGI:95412 |
| Darker colors indicate more annotations |
| Human Phenotypes | Micrognathia |
Microcephaly |
Premature closure of fontanelles |
Camptodactyly of finger |
Adducted thumb |
Flexion contracture of toe |
Abnormal femoral metaphysis morphology |
Abnormal tibial metaphysis morphology |
Rocker bottom foot |
Abnormal metaphysis morphology |
Flared metaphysis |
Dislocated radial head |
Steep acetabular roof |
Hip dislocation |
Knee flexion contracture |
Elbow flexion contracture |
Wrist flexion contracture |
Joint swelling |
Arthrogryposis multiplex congenita |
Bone pain |
Pathologic fracture |
Slender long bone |
Abnormality of the vertebral column |
Kyphoscoliosis |
Vertebral compression fracture |
Back pain |
Osteopenia |
Osteolysis |
Osteosarcoma |
| Disease(s) Associated with ERCC1 | |||||||||||||||||||||||||||||
| cerebrooculofacioskeletal syndrome 4 | |||||||||||||||||||||||||||||
| multiple myeloma | |||||||||||||||||||||||||||||
| osteosarcoma | |||||||||||||||||||||||||||||
| pancreatic cancer |
| Mouse Phenotypes | kyphosis |
decreased bone mineral density |
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| Availability | Mouse Genotype | ||
| Ercc1tm1Jhjh/Ercc1tm1Jhjh | |||
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 04/30/2024 MGI 6.23 |
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