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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ext1
exostosin glycosyltransferase 1
MGI:894663
69 phenotypes from 7 alleles in 13 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ext1Gt(LST064)Byg/Ext1Gt(LST064)Byg
involves: 129P2/OlaHsd * C57BL/6 		abnormal eye morphology J:70273
abnormal limb morphology J:70273
prenatal lethality, complete penetrance J:70273
Ext1tm1.1Vcs/Ext1tm1.1Vcs
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		normal neoplasm J:157599
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-cre/ERT)KA3Smac/0
involves: 129S1/Sv * 129X1/SvJ * FVB/N 		abnormal basicranium morphology J:242977
abnormal cranial synchondrosis J:242977
increased osteochondroma incidence J:242977
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		increased osteochondroma incidence J:157599
Ext1tm1.1Yama/Ext1+
involves: 129S4/SvJaeSor * 129S5/SvEvBrd 		increased osteochondroma incidence J:161395
Ext1tm1Dews/Ext1+
involves: 129S7/SvEvBrd * C57BL/6 		abnormal long bone epiphyseal plate proliferative zone J:104933
abnormal skeleton morphology J:104933
Ext1tm1Dews/Ext1tm1Dews
involves: 129S7/SvEvBrd * C57BL/6 		abnormal developmental patterning J:64021
abnormal embryonic tissue morphology J:64021
abnormal extraembryonic tissue morphology J:64021
absent mesoderm J:64021
decreased embryo size J:64021
disorganized embryonic tissue J:64021
embryonic lethality between implantation and somite formation, complete penetrance J:64021
failure of primitive streak formation J:64021
Ext1tm1Lex/Ext1tm1Lex
involves: 129S5/SvEvBrd 		premature death J:103485
Ext1tm1Vcs/Ext1+
Tg(Col2a1-cre)1Bhr/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		preweaning lethality, complete penetrance J:157599
Ext1tm1Vcs/Ext1+
Hprt1tm1(CAG-cre)Mnn/Hprt1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		embryonic lethality during organogenesis, complete penetrance J:157599
Ext1tm1Vcs/Ext1+
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		normal neoplasm J:157599
prenatal lethality, incomplete penetrance J:157599
Ext1tm1Vcs/Ext1tm1Vcs
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		normal neoplasm J:157599
no abnormal phenotype detected J:145524
Ext1tm1Vcs/Ext1tm1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		increased osteochondroma incidence J:157599
prenatal lethality, incomplete penetrance J:157599
Ext1tm1Vcs/Ext1tm1Vcs
Tg(Sp7-cre/ERT)1Hmk/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		normal neoplasm J:157599
Ext1tm1Yama/Ext1tm1Yama
B6.129S5-Ext1tm1Yama 		decreased cranial neural crest cell proliferation J:152572
Ext1tm1Yama/Ext1tm1Yama
Acantm1(cre/ERT2)Crm/Acan+
involves: 129S5/SvEvBrd * 129S6/SvEvTac * C57BL/6NCrl 		increased osteochondroma incidence J:242977
Ext1tm1Yama/Ext1tm1Yama
H2az2Tg(Wnt1-cre)11Rth/H2az2+
B6.Cg-H2az2Tg(Wnt1-cre)11Rth Ext1tm1Yama 		abnormal cornea stroma morphology J:152572
abnormal craniofacial morphology J:152572
abnormal ear morphology J:152572
abnormal eye morphology J:152572
abnormal iridocorneal angle J:152572
absent eyelids J:152572
absent hard palate J:152572
ciliary body coloboma J:152572
cleft secondary palate J:152572
decreased cornea thickness J:152572
decreased cranial neural crest cell proliferation J:152572
decreased eye anterior chamber depth J:152572
iris coloboma J:152572
neonatal lethality, complete penetrance J:152572
Ext1tm1Yama/Ext1tm1Yama
Tg(Camk2a-cre)2834Lusc/0
involves: 129S5/SvEvBrd * C57BL/6 		abnormal excitatory postsynaptic currents J:182220
abnormal miniature excitatory postsynaptic currents J:182220
abnormal nest building behavior J:182220
abnormal social investigation J:182220
abnormal synaptic transmission J:182220
decreased anxiety-related response J:182220
decreased fear-related response J:182220
decreased thermal nociceptive threshold J:182220
decreased vocalization J:182220
increased locomotor activity J:182220
increased stereotypic behavior J:182220
reduced AMPA-mediated synaptic currents J:182220
Ext1tm1Yama/Ext1tm1Yama
Tg(Col2a1-cre/ERT)KA3Smac/0
involves: 129S5/SvEvBrd * FVB/N 		abnormal cartilage development J:161395
abnormal cartilage morphology J:161395
abnormal epiphyseal plate morphology J:161395
abnormal forelimb morphology J:161395
abnormal skeleton morphology J:161395
bowed radius J:161395
decreased body height J:161395
dislocated radius head J:161395
exostosis J:161395
increased diameter of radius J:161395
increased diameter of ulna J:161395
increased osteochondroma incidence J:161395
scoliosis J:161395
Ext1tm1Yama/Ext1tm1Yama
Tg(Nes-cre)1Kln/0
involves: 129S5/SvEvBrd * C57BL/6 * SJL 		abnormal axon guidance J:86465
abnormal brain commissure morphology J:86465
abnormal brain development J:86465
abnormal cerebral cortex morphology J:86465
absent anterior commissure J:86465
absent cerebellum J:86465
absent corpus callosum J:86465
absent hippocampal commissure J:86465
absent inferior colliculus J:86465
absent olfactory bulb J:86465
neonatal lethality, complete penetrance J:86465
thin cerebral cortex J:86465
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11/12/2024
MGI 6.24 		The Jackson Laboratory