Symbol
Name
ID

Serpinh1
serine (or cysteine) peptidase inhibitor, clade H, member 1
MGI:88283

Phenotype annotations related to skeleton

*	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

Availability

Mouse Genotype

Serpinh1^tm2Kzn/Serpinh1^tm2Kzn
Tg(Col2a1-cre)1Bhr/0 (conditional)

Contributing Projects: 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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