Symbol Name ID |
Serpinh1
serine (or cysteine) peptidase inhibitor, clade H, member 1 MGI:88283 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Decreased calvarial ossification |
Micrognathia |
Malar flattening |
Shallow orbits |
Relative macrocephaly |
Dentinogenesis imperfecta |
Bowing of the long bones |
Fibular bowing |
Genu valgum |
Tibial bowing |
Short femur |
Micromelia |
Rhizomelia |
Joint hypermobility |
Generalized joint hypermobility |
Broad ribs |
Multiple rib fractures |
Thin ribs |
Thoracic scoliosis |
Thoracic hypoplasia |
Narrow chest |
Scoliosis |
Platyspondyly |
Vertebral compression fracture |
Osteopenia |
Thin bony cortex |
Disease(s) Associated with SERPINH1 | ||||||||||||||||||||||||||
osteogenesis imperfecta type 10 |
Mouse Phenotypes | skeleton phenotype |
hemarthrosis |
abnormal phalanx morphology |
abnormal elbow joint morphology |
abnormal humerus morphology |
short humerus |
short radius |
short ulna |
short femur |
short fibula |
short tibia |
abnormal long bone morphology |
abnormal thoracic cage morphology |
abnormal rib development |
abnormal spine curvature |
kyphosis |
abnormal vertebral arch morphology |
abnormal chondrocyte morphology |
abnormal skeleton development |
chondrodystrophy |
abnormal bone ossification |
delayed endochondral bone ossification |
delayed bone ossification |
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Availability | Mouse Genotype | |||||||||||||||||||||||
Serpinh1tm2Kzn/Serpinh1tm2Kzn Tg(Col2a1-cre)1Bhr/0 (conditional) |
* |
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 08/21/2024 MGI 6.24 |
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