Symbol Name ID |
Mbtps1
membrane-bound transcription factor peptidase, site 1 MGI:1927235 |
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 |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||
Mbtps1tm1Jdh/Mbtps1tm1Jdh Tg(Col2a1-cre)1Bhr/0 (conditional) |
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Mbtps1tm1Jdh/Mbtps1tm1Jdh Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
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Mbtps1tm1Jdh/Mbtps1+ Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/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 04/23/2024 MGI 6.23 |
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