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Symbol
Name
ID

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

Phenotype annotations related to growth/size/body

Darker colors indicate more annotations

Human Phenotypes	Inguinal hernia	Short stature	Decreased body weight	Small for gestational age
Disease(s) Associated with MBTPS1
spondyloepiphyseal dysplasia Kondo-Fu type

Mouse Phenotypes		protruding tongue	decreased birth body size	abnormal chest morphology	decreased body size	distended abdomen
Availability	Mouse Genotype	protruding tongue	decreased birth body size	abnormal chest morphology	decreased body size	distended abdomen
	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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