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Symbol Name ID |
Ank
progressive ankylosis MGI:3045421 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cranial hyperostosis |
Mandibular prognathia |
Calvarial osteosclerosis |
Sclerosis of skull base |
Macrocephaly |
Club-shaped distal femur |
Erlenmeyer flask deformity of the femurs |
Metaphyseal widening |
Flared metaphysis |
Joint swelling |
Limitation of joint mobility |
Chondrocalcinosis |
Polyarticular chondrocalcinosis |
Abnormal pelvic girdle bone morphology |
Abnormality of the vertebral column |
Abnormal intervertebral disk morphology |
Calcification of cartilage |
Arthritis |
Osteoarthritis |
Arthropathy |
Joint dislocation |
| Disease(s) Associated with ANKH | |||||||||||||||||||||
| autosomal dominant craniometaphyseal dysplasia | |||||||||||||||||||||
| chondrocalcinosis |
| Mouse Phenotypes | abnormal osteoclast differentiation |
abnormal osteoblast physiology |
abnormal craniofacial bone morphology |
abnormal cranium morphology |
abnormal basioccipital bone morphology |
abnormal foramen magnum morphology |
foramen magnum stenosis |
abnormal temporal bone petrous part morphology |
abnormal cranial foramen morphology |
thick neurocranium |
abnormal tooth hard tissue morphology |
abnormal cementum morphology |
mandibular hyperostosis |
abnormal middle ear ossicle morphology |
fusion of middle ear ossicles |
incudomalleolar fusion |
craniofacial hyperostosis |
arthritis |
abnormal transverse acetabular ligament morphology |
abnormal femur morphology |
club-shaped femur |
short femur |
increased diameter of femur |
abnormal sesamoid bone of gastrocnemius morphology |
abnormal tendon morphology |
calcified tendon |
abnormal skeleton morphology |
abnormal intervertebral disk morphology |
calcified intervertebral disk |
kyphosis |
abnormal bone structure |
increased bone mineral content |
increased bone mineral density |
decreased trabecular bone volume |
decreased compact bone thickness |
decreased trabecular bone connectivity density |
abnormal cartilage morphology |
abnormal chondrocyte morphology |
abnormal articular cartilage morphology |
abnormal joint morphology |
abnormal synovial joint cavity morphology |
calcified joint |
fused joints |
abnormal ligament morphology |
hyperostosis |
abnormal bone mineralization |
decreased joint mobility |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||
| Ankank/Ankank | ||||||||||||||||||||||||||||||||||||||||||||||||
| Anktm1.1Ejr/Anktm1.1Ejr | ||||||||||||||||||||||||||||||||||||||||||||||||
| Anktm1.1Kng/Anktm1.1Kng | ||||||||||||||||||||||||||||||||||||||||||||||||
| Anktm1.1Kng/Anktm1.1Kng Tg(282M13)1Kng/? |
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| Anktm1.1Kng/Anktm1.1Kng Tg(282M13-Ank*M48T)1Kng/? |
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| Anktm1.1Kng/Anktm1.1Kng Tg(282M13-Ank*G389R)1Kng/? |
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| Anktm1.1Ejr/Ank+ | ||||||||||||||||||||||||||||||||||||||||||||||||
| Anktm1Kng/Ank+ Tg(Gdf5-cre,-ALPP)1Kng/? (conditional) |
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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 04/23/2024 MGI 6.23 |
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