Symbol
Name
ID

Mbtps1
membrane-bound transcription factor peptidase, site 1
MGI:1927235

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes	Brachydactyly	Short femoral neck	Delayed ossification of carpal bones	Pectus carinatum	Kyphosis	Reduced bone mineral density	Spondyloepiphyseal dysplasia
Disease(s) Associated with MBTPS1
spondyloepiphyseal dysplasia Kondo-Fu type

Mouse Phenotypes

increased chondrocyte apoptosis

short basicranium

small cranium

short mandible

short maxilla

abnormal skeleton morphology

abnormal appendicular skeleton morphology

abnormal long bone hypertrophic chondrocyte zone

decreased width of hypertrophic chondrocyte zone

abnormal axial skeleton morphology

scoliosis

decreased volumetric bone mineral density

decreased bone mineral density

decreased compact bone volume

decreased trabecular bone volume

abnormal compact bone thickness

decreased compact bone thickness

decreased osteoblast cell number

abnormal skeleton development

chondrodystrophy

abnormal skeleton physiology

abnormal bone ossification

abnormal bone mineralization

decreased bone mineralization

delayed endochondral bone ossification

failure of endochondral bone ossification

fragile skeleton

Availability

Mouse Genotype

Mbtps1^tm1Jdh/Mbtps1^tm1Jdh
Tg(Col2a1-cre)1Bhr/0 (conditional)

Mbtps1^tm1Jdh/Mbtps1^tm1Jdh
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional)

Mbtps1^tm1Jdh/Mbtps1⁺
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/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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