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Symbol
Name
ID
Mbtps1
membrane-bound transcription factor peptidase, site 1
MGI:1927235
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Brachydactyly
Short femoral neck
Delayed ossification of carpal bones
Disease(s) Associated with MBTPS1
spondyloepiphyseal dysplasia Kondo-Fu type

Mouse Phenotypes
abnormal limb morphology
Availability Mouse Genotype
Mbtps1tm1Jdh/Mbtps1tm1Jdh
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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory