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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Mbtps1
membrane-bound transcription factor peptidase, site 1
MGI:1927235
60 phenotypes from 5 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Mbtps1Gt(PST115)Byg/Mbtps1+
involves: 129P2/OlaHsd * C57BL/6
prenatal lethality, incomplete penetrance J:146454
Mbtps1Gt(PST115)Byg/Mbtps1Gt(PST115)Byg
involves: 129P2/OlaHsd * C57BL/6
abnormal germ layer development J:70273
embryonic lethality at implantation, complete penetrance J:70273
inner cell mass degeneration J:70273
Mbtps1Gt(PST115)Byg/Mbtps1wrt
involves: 129P2/OlaHsd * C57BL/6
prenatal lethality, complete penetrance J:146454
Mbtps1m2Btlr/Mbtps1m2Btlr
C57BL/6J-Mbtps1m2Btlr
irregular coat pigmentation J:274663
Mbtps1tm1.1Jdh/Mbtps1tm1.1Jdh
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J
preweaning lethality, complete penetrance J:72930
Mbtps1tm1Jdh/Mbtps1+
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S6/SvEvTac * C57BL/6 * CD-1
abnormal appendicular skeleton morphology J:258274
abnormal axial skeleton morphology J:258274
abnormal bone ossification J:258274
abnormal compact bone thickness J:258274
decreased body size J:258274
Mbtps1tm1Jdh/Mbtps1tm1Jdh
Tg(Col2a1-cre)1Bhr/0
involves: 129S6/SvEvTac * C57BL/6 * SJL
abnormal bone mineralization J:135374
abnormal chest morphology J:135374
abnormal limb morphology J:135374
abnormal long bone hypertrophic chondrocyte zone J:135374
abnormal skeleton development J:135374
abnormal skeleton morphology J:135374
abnormal skeleton physiology J:135374
chondrodystrophy J:135374
decreased birth body size J:135374
distended abdomen J:135374
failure of endochondral bone ossification J:135374
neonatal lethality, complete penetrance J:135374
protruding tongue J:135374
short basicranium J:135374
short mandible J:135374
short maxilla J:135374
small cranium J:135374
Mbtps1tm1Jdh/Mbtps1tm1Jdh
Tg(Mx1-cre)29-4Her/0
involves: 129S6/SvEvTac * C57BL/6J * SJL
abnormal intestinal lipid absorption J:72930
abnormal lipid homeostasis J:72930
decreased circulating cholesterol level J:72930
decreased circulating triglyceride level J:72930
decreased liver triglyceride level J:72930
Mbtps1tm1Jdh/Mbtps1tm1Jdh
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S6/SvEvTac * C57BL/6 * CD-1
abnormal appendicular skeleton morphology J:258274
abnormal axial skeleton morphology J:258274
abnormal bone marrow cell morphology/development J:258274
abnormal bone ossification J:258274
abnormal skeleton development J:258274
decreased body size J:258274
decreased bone mineral density J:258274
decreased bone mineralization J:258274
decreased compact bone thickness J:258274
decreased compact bone volume J:258274
decreased osteoblast cell number J:258274
decreased trabecular bone volume J:258274
decreased volumetric bone mineral density J:258274
decreased width of hypertrophic chondrocyte zone J:258274
delayed endochondral bone ossification J:258274
fragile skeleton J:258274
increased chondrocyte apoptosis J:258274
scoliosis J:258274
Mbtps1wrt/Mbtps1wrt
C57BL/6J-Mbtps1wrt
abnormal cell physiology J:123123
abnormal coat/hair pigmentation J:123123, J:146454
decreased circulating cholesterol level J:94077, J:123123
decreased circulating HDL cholesterol level J:123123
decreased cytotoxic T cell cytolysis J:94077
decreased susceptibility to bacterial infection J:123123
hypopigmentation J:94077, J:123123, J:146454
increased circulating LDL cholesterol level J:123123
increased interleukin-1 beta secretion J:146454
increased interleukin-6 secretion J:146454
increased susceptibility to Herpesvirales infection J:94077, J:123123
increased susceptibility to induced colitis J:146454
increased susceptibility to xenobiotic induced morbidity/mortality J:146454
reduced female fertility J:123123

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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
04/09/2024
MGI 6.23
The Jackson Laboratory