ENSMUSG00000061731


Mus musculus

Features
Gene ID: ENSMUSG00000061731
  
Biological name :Ext1
  
Synonyms : Exostosin-1 / Ext1 / P97464
  
Possible biological names infered from orthology : exostosin glycosyltransferase 1 / Q16394
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: C
Gene start: 53064038
Gene end: 53346159
  
Corresponding Affymetrix probe sets: 10428579 (MoGene1.0st)   1417730_at (Mouse Genome 430 2.0 Array)   1458054_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000117921
Ensembl peptide - ENSMUSP00000076505
NCBI entrez gene - 14042     See in Manteia.
MGI - MGI:894663
RefSeq - NM_010162
RefSeq Peptide - NP_034292
swissprot - D6RE56
swissprot - P97464
swissprot - Q3V1P4
Ensembl - ENSMUSG00000061731
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ext1aENSDARG00000103155Danio rerio
 ext1bENSDARG00000101019Danio rerio
 EXT1ENSGALG00000039013Gallus gallus
 EXT1ENSG00000182197Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Extl1 / Q9JKV7 / Exostosin-like 1 / Q92935* / exostosin like glycosyltransferase 1*ENSMUSG0000002883841
Ext2 / P70428 / Mus musculus exostoses (multiple) 2 (Ext2), transcript variant 1, mRNA. / Q93063* / exostosin glycosyltransferase 2*ENSMUSG0000002719833
Extl3 / exostosin like glycosyltransferase 3 / O43909*ENSMUSG0000002197828
Extl2 / Q9ES89 / Exostosin-like 2 / Q9UBQ6* / exostosin like glycosyltransferase 2*ENSMUSG0000002796312


Protein motifs (from Interpro)
Interpro ID Name
 IPR004263  Exostosin-like
 IPR015338  Exostosin , C-terminal
 IPR027670  Exostosin-1
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0006024 glycosaminoglycan biosynthetic process IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0007369 gastrulation IMP
 biological_processGO:0007411 axon guidance IMP
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007492 endoderm development IMP
 biological_processGO:0007498 mesoderm development IMP
 biological_processGO:0015012 heparan sulfate proteoglycan biosynthetic process ISO
 biological_processGO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IEA
 biological_processGO:0021772 olfactory bulb development IMP
 biological_processGO:0033692 cellular polysaccharide biosynthetic process IEA
 biological_processGO:0072498 embryonic skeletal joint development IMP
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IDA
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity IEA
 molecular_functionGO:0015020 glucuronosyltransferase activity ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups ISO
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
 molecular_functionGO:0050509 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IEA


Pathways (from Reactome)
Pathway description
HS-GAG biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000161 scoliosis "lateral and rotational curvature of the spine" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53770, J:66943]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0000163 abnormal cartilage morphology "anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0000552 abnormal radius morphology "malformation of the short bone of the lateral forearm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0000850 absent cerebellum "missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0001255 decreased body height "decreased shoulder to floor distance compared to controls" [dlb:Donna Burkart, Mouse Genome Informatics Curator]
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Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

 MP:0001341 absent eyelids "missing skin folds covering the front of the eyeball when closed" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0001364 decreased anxiety-related response "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0001409 increased stereotypic behavior "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, MGI:CLS, J:57125]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0001447 abnormal nest building behavior "deviation from the usual behavior of mice to build sleeping nests out of any available materials; also of female mice to bulid nests to protect offspring" [J:42758, What s wrong with my mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001693 failure of primitive streak formation "inability to form the epiblast ridge from which arises the germ layers of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: kkt/kkt+,Pax1un/Pax1+
Genetic Background: involves: C57BL/6 * CBA

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aph1ctm1Bdes/Aph1ctm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lystbg-3Btlr/Lystbg-3Btlr
Genetic Background: C57BL/6J-Lystbg-3Btlr

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0002102 abnormal ear morphology "structural or developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lystbg-3Btlr/Lystbg-3Btlr
Genetic Background: C57BL/6J-Lystbg-3Btlr

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(SNCA*A53T)Djmo/Gt(ROSA)26Sortm1(SNCA*A53T)Djmo
Genetic Background: involves: 129 * C57BL/6J

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0002199 abnormal brain commissure morphology "absent or defective structure in a bundle of nerve fibers connecting the two brain hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

Allelic Composition: Ext1tm1Yama/Ext1+,Slit2tm1Matl/Slit2tm1Matl,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6 * SJL

 MP:0003451 absent olfactory bulb "absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0003460 decreased fear-related response "reduced emotional response related to anticipation of specific pain or danger" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0003635 abnormal synaptic transmission "defect in the communication from a neuron to a target across a synapse " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
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Allelic Composition: Gja8Lop10/Gja8tm1Scr
Genetic Background: involves: 129S4/SvJae * AKR/J * BALB/cJ * C57BL/6J

 MP:0003988 disorganized embryonic tissue "a lack of the regular arrangement of any embryonic tissues" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:58080]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0003998 decreased thermal nociceptive threshold "a lower than average point at which thermal pain sensation is first detectable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0004221 abnormal iridocorneal angle "any structural abnormality of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0004374 bowed radius "increased curvature of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0005198 abnormal aqueous drainage system morphology "anomalies in the structures associated with drainage of the aqueous humor from the eye, these include the trabecular meshwork, Schlemm s canal, the uveoscleral network, and the aqueous veins " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama
Genetic Background: B6.129S5-Ext1tm1Yama

 MP:0005203 abnormal trabecular meshwork morphology "structural anomaly in the porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama
Genetic Background: B6.129S5-Ext1tm1Yama

 MP:0005204 abnormal canal of Schlemm morphology "structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama
Genetic Background: B6.129S5-Ext1tm1Yama

 MP:0005205 abnormal eye anterior chamber "anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0005258 ocular hypertension "abnormal elevation of the intraocular pressure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama
Genetic Background: B6.129S5-Ext1tm1Yama

 MP:0005300 abnormal corneal stroma morphology "structural anomaly of the lamellated connective tissue of the cornea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gja8Lop10/Gja8tm1Scr
Genetic Background: involves: 129S4/SvJae * AKR/J * BALB/cJ * C57BL/6J

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0005543 corneal thinning "decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0008161 increased diameter of radius "increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0008163 increased diameter of ulna "increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0008223 absent hippocampal commissure "absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0008227 absent anterior commissure "absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0008762 embryonic lethality "death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0009039 absent inferior colliculus "absence of the paired inferior eminence of the mesencephalic tectum" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

 MP:0009877 exostosis "a projection of bone, sometimes a benign tumor, that is capped by cartilage and arises from a bone that develops from cartilage" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0009894 absent hard palate "absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0010029 abnormal basicranium morphology "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Acantm1(cre/ERT2)Crm/Acan+
Genetic Background: involves: 129S5/SvEvBrd * 129S6/SvEvTac * C57BL/6NCrl

 MP:0010079 osteochondroma "a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells; most often associated with one or more of the long bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ext1tm1.1Vcs/Ext1tm1.1Vcs,Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ext1tm1.1Yama/Ext1+
Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Acantm1(cre/ERT2)Crm/Acan+
Genetic Background: involves: 129S5/SvEvBrd * 129S6/SvEvTac * C57BL/6NCrl

Allelic Composition: Ext1tm1.1Vcs/Ext1tm1.1Vcs,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0010714 coloboma of the iris "congenital defect of the iris in which some part of the structure is absent" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0010719 coloboma of the ciliary body "congenital defect of the ciliary body in which some part of the structure is absent" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0011003 reduced AMPA-mediated synaptic currents "reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: KitlSl-20J/KitlSl-20J
Genetic Background: C57BL/6J-KitlSl-20J/J

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Lystbg-3Btlr/Lystbg-3Btlr
Genetic Background: C57BL/6J-Lystbg-3Btlr

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Ext1tm1.2Vcs/Ext1tm1.2Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ext1tm1Vcs/Ext1+,Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0012760 decreased cranial neural crest cell proliferation "reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division" [MGI:anna]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: B6.Cg-H2afvTg(Wnt1-cre)11Rth Ext1tm1Yama

Allelic Composition: Ext1tm1Yama/Ext1tm1Yama
Genetic Background: B6.129S5-Ext1tm1Yama

 MP:0020351 decreased vocalization "decrease in the production of vocal sound" [ORCID: orcid.org/0000-0003-4606-0597, PMID:26621702]
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Allelic Composition: Tyrc-h/Tyrc-h
Genetic Background: B6.Cg-Tyrc-h/J

 MP:0030443 abnormal cranial synchondrosis "any anomaly in the development of cartilaginous joints or growth centers between bones of the skull base by the formation of hyaline cartilage which is abundant during the growth phase and ultimately ossifies during skeletal maturation; synchondroses are composed of mirror-image growth plates with a central resting zone, proliferative zones, and hypertrophic zones on both sides; in mouse, there are two synchondroses in the midline cranial base, the sphenooccipital and presphenoidal synchondroses" [PMID:27250655, PMID:28827837]
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Allelic Composition: Ext1tm1.1Vcs/Ext1tm1.1Vcs,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027198 Ext2 / P70428 / Mus musculus exostoses (multiple) 2 (Ext2), transcript variant 1, mRNA. / Q93063* / exostosin glycosyltransferase 2*  / complex






 

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