|
Symbol Name ID |
Zmpste24
zinc metallopeptidase, STE24 MGI:1890508 |
| Darker colors indicate more annotations |
| Human Phenotypes | Decreased calvarial ossification |
Temporomandibular joint ankylosis |
Micrognathia |
Decreased skull ossification |
Delayed cranial suture closure |
Widely patent fontanelles and sutures |
Wormian bones |
Wide anterior fontanel |
Large fontanelles |
Osteolytic defects of the distal phalanges of the hand |
Camptodactyly of finger |
Short phalanx of finger |
Acroosteolysis of distal phalanges (feet) |
Rocker bottom foot |
Flexion contracture |
Arthrogryposis multiplex congenita |
Limb joint contracture |
Multiple joint contractures |
Ankylosis |
Overtubulated long bones |
Congenital pseudoarthrosis of the clavicle |
Aplasia/Hypoplasia of the clavicles |
Short clavicles |
Progressive clavicular acroosteolysis |
Thin clavicles |
Thin ribs |
Increased anterioposterior diameter of thorax |
Thoracic kyphoscoliosis |
Kyphoscoliosis |
Osteopenia |
| Disease(s) Associated with ZMPSTE24 | ||||||||||||||||||||||||||||||
| mandibuloacral dysplasia type B lipodystrophy | ||||||||||||||||||||||||||||||
| restrictive dermopathy | ||||||||||||||||||||||||||||||
| restrictive dermopathy 1 |
| Mouse Phenotypes | abnormal craniofacial bone morphology |
abnormal cranial suture morphology |
abnormal zygomatic arch morphology |
abnormal incisor morphology |
abnormal lower incisor morphology |
long lower incisors |
abnormal mandible morphology |
micrognathia |
abnormal zygomatic bone morphology |
abnormal femur morphology |
abnormal fibula morphology |
abnormal tibia morphology |
abnormal skeleton morphology |
abnormal long bone morphology |
abnormal axial skeleton morphology |
abnormal rib morphology |
rib fractures |
abnormal thoracic vertebrae morphology |
kyphosis |
scoliosis |
abnormal lumbar vertebrae morphology |
decreased bone mineral density of presacral vertebrae |
abnormal bone structure |
decreased compact bone thickness |
abnormal trabecular bone morphology |
abnormal skeleton physiology |
fragile skeleton |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||
| Zmpste24tm1Otin/Zmpste24tm1Otin | ||||||||||||||||||||||||||||
| Zmpste24tm1Sgy/Zmpste24tm1Sgy | ||||||||||||||||||||||||||||
| Zmpste24tm1Sgy/Zmpste24+ | ||||||||||||||||||||||||||||
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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