ENSMUSG00000018395


Mus musculus

Features
Gene ID: ENSMUSG00000018395
  
Biological name :Kif3a
  
Synonyms : Kif3a / Kinesin-like protein KIF3A / P28741
  
Possible biological names infered from orthology : kinesin family member 3A / Q9Y496
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: B1.3
Gene start: 53567379
Gene end: 53601967
  
Corresponding Affymetrix probe sets: 10376033 (MoGene1.0st)   1420375_at (Mouse Genome 430 2.0 Array)   1436560_at (Mouse Genome 430 2.0 Array)   1449841_at (Mouse Genome 430 2.0 Array)   1455652_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116509
Ensembl peptide - ENSMUSP00000120388
Ensembl peptide - ENSMUSP00000133432
Ensembl peptide - ENSMUSP00000056197
Ensembl peptide - ENSMUSP00000112782
Ensembl peptide - ENSMUSP00000113848
Ensembl peptide - ENSMUSP00000115161
NCBI entrez gene - 16568     See in Manteia.
MGI - MGI:107689
RefSeq - NM_008443
RefSeq - XM_006532328
RefSeq - XM_006532326
RefSeq - XM_006532325
RefSeq - NM_001290805
RefSeq - NM_001290806
RefSeq Peptide - NP_001277735
RefSeq Peptide - NP_001277734
RefSeq Peptide - NP_032469
swissprot - F6V6Z9
swissprot - P28741
swissprot - Q3TET1
swissprot - Q3UI47
swissprot - B1AQZ2
swissprot - F6VT70
swissprot - B1AQZ5
Ensembl - ENSMUSG00000018395
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kif3aENSDARG00000087538Danio rerio
 KIF3AENSGALG00000006860Gallus gallus
 KIF3AENSG00000131437Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Kif3b / Q61771 / Kinesin-like protein KIF3B Kinesin-like protein KIF3B, N-terminally processed / O15066* / kinesin family member 3B*ENSMUSG0000002747550
Kif3c / O35066 / Kinesin-like protein KIF3C / O14782* / kinesin family member 3C*ENSMUSG0000002066845
Kif17 / Q99PW8 / Kinesin-like protein KIF17 / Q9P2E2* / kinesin family member 17*ENSMUSG0000002875842
Cenpe / centromere protein E / Q02224*ENSMUSG0000004532833
Kif11 / Q6P9P6 / Kinesin-like protein KIF11 / P52732* / kinesin family member 11*ENSMUSG0000001244332
Kif4 / P33174 / Chromosome-associated kinesin KIF4 / KIF4A* / KIF4B* / Q2VIQ3* / O95239* / kinesin family member 4B* / kinesin family member 4A*ENSMUSG0000003431131
Kif15 / Q6P9L6 / Kinesin-like protein KIF15 / Q9NS87* / kinesin family member 15*ENSMUSG0000003676830
Kif27 / Q7M6Z4 / Kinesin-like protein KIF27 / Q86VH2* / kinesin family member 27*ENSMUSG0000006017629
Kif5a / P33175 / Kinesin heavy chain isoform 5A / Q12840* / kinesin family member 5A*ENSMUSG0000007465729
Kif21a / Q9QXL2 / Kinesin-like protein KIF21A / Q7Z4S6* / kinesin family member 21A*ENSMUSG0000002262929
Kif21b / kinesin family member 21B / O75037*ENSMUSG0000004164229
Kif7 / kinesin family member 7 / Q2M1P5*ENSMUSG0000005038229
Kif5b / Q61768 / Kinesin-1 heavy chain / P33176* / kinesin family member 5B*ENSMUSG0000000674028
Kif5c / P28738 / Kinesin heavy chain isoform 5C / O60282* / kinesin family member 5C*ENSMUSG0000002676428


Protein motifs (from Interpro)
Interpro ID Name
 IPR001752  Kinesin motor domain
 IPR019821  Kinesin motor domain, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027640  Kinesin-like protein
 IPR036961  Kinesin motor domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IGI
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0008544 epidermis development IMP
 biological_processGO:0009952 anterior/posterior pattern specification IMP
 biological_processGO:0009953 dorsal/ventral pattern formation IMP
 biological_processGO:0010457 centriole-centriole cohesion IMP
 biological_processGO:0021542 dentate gyrus development IMP
 biological_processGO:0021904 dorsal/ventral neural tube patterning IMP
 biological_processGO:0021915 neural tube development IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0034454 microtubule anchoring at centrosome IMP
 biological_processGO:0036334 epidermal stem cell homeostasis IMP
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IMP
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0061351 neural precursor cell proliferation IMP
 biological_processGO:0090316 positive regulation of intracellular protein transport IEA
 biological_processGO:1905128 positive regulation of axo-dendritic protein transport IEA
 biological_processGO:1905515 non-motile cilium assembly IMP
 biological_processGO:2000771 positive regulation of establishment or maintenance of cell polarity regulating cell shape IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005876 spindle microtubule ISO
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IEA
 cellular_componentGO:0015630 microtubule cytoskeleton ISO
 cellular_componentGO:0016939 kinesin II complex ISO
 cellular_componentGO:0030990 intraciliary transport particle IDA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0097470 ribbon synapse IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0016887 ATPase activity IBA
 molecular_functionGO:0017137 Rab GTPase binding ISO
 molecular_functionGO:0019894 kinesin binding IEA
 molecular_functionGO:0030507 spectrin binding ISO


Pathways (from Reactome)
Pathway description
MHC class II antigen presentation
Hedgehog off state
Intraflagellar transport
Hedgehog on state
Activation of SMO
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000106 abnormal basisphenoid bone morphology "malformed base of the sphenoid bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000107 abnormal frontal bone morphology "malformed bone forming the forehead and part of the eye orbit" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000131 abnormal long bone epiphysis morphology "the head of a developing long bone that is separated from the shaft by the epiphyseal plate" [J:61509]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Gsn/Kif3a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0000522 cysts in kidney cortex "abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

 MP:0000930 wavy neural tube "undulations in the embryonic neural tube" [J:37888]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

 MP:0001300 ocular hypertelorism "increased distance between the eyes " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gpr161tm1Lex/Gpr161tm1Lex,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6N

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Gsn/Kif3a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Gpr161tm1Lex/Gpr161tm1Lex,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129 * C57BL/6N

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Gsn/Kif3a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Kif3a2a/Kif3a2a
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Gsn/Kif3a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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: Fgf23tm1Blan/Fgf23+,PhexHyp/Y
Genetic Background: Not Specified

 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ift122sopb/Ift122sopb,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Foxj1tm1.1Ctk/Foxj1tm1.2Ctk,Tg(FOXJ1-EGFP)85Leo/0,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J * SJL

 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: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0002239 abnormal nasal septum morphology "any structural anomaly of the structure that separates the two nasal cavities " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [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: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0002820 abnormal premaxilla morphology "malformation or absence of the anterior and inner portion of the maxilla" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:76662]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0003055 abnormal epiphyseal plate morphology "malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0003215 renal interstitial fibrosis "formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 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: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gpr161tm1Lex/Gpr161tm1Lex,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129 * C57BL/6N

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0004073 caudal body truncation "caudal part of body truncated with anterior portion relatively normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Ift122sopb/Ift122sopb,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0004623 thoracic vertebral fusion "the union of one or more thoracic vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)1Bhr/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0004911 absent mandibular condyloid process "absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0005249 abnormal palatine bone morphology "structural anomaly of the anteriorly located rigid section of the palate" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0005297 spina bifida occulta "common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Jarid2Gt(ROSA)1Gel/Jarid2Gt(ROSA)1Gel
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0005650 abnormal limb bud morphology "aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0006346 small branchial arch "reduced size of one or more of the branchial arches" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0006396 decreased long bone epiphyseal plate size "reduced size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

 MP:0006397 disorganized long bone epiphyseal plate "a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Jarid2jumonji/Jarid2jumonji
Genetic Background: C3.129P2-Jarid2jumonji

Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008272 abnormal endochondral bone ossification "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009328 delayed heart looping "late onset of the initiation and/or completion of cardiac looping" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 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: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010500 myocardium hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the heart myocardium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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: Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Kif3a2a/Kif3a2a
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0011307 kidney medulla cysts "abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids" [MGI:anna]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0011346 renal tubule atrophy "acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0011368 increased kidney apoptosis "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0012093 absent nodal flow "absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur" [MGI:anna]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012509 neural tube degeneration "a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)" [MGI:anna]
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Allelic Composition: Kif3atm1Noh/Kif3atm1Noh
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012754 abnormal cranial neural crest cell morphology "any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage" [http://discovery.lifemapsc.com/in-vivo-development/neural-crest/cranial-neural-crest, http://embryology.med.unsw.edu.au/embryology/index.php?title=Neural_Crest_Development#Cranial_neural_crest, http://en.wikipedia.org/wiki/Cranial_neural_crest, MGI:anna]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0012759 increased cranial neural crest cell proliferation "enhanced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division" [MGI:anna]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,Tg(Col2a1-cre)1Bhr/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0020384 absent kidney epithelial cell primary cilium "absence of non-motile cilia on cells of the renal tubule or collecting duct" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Itgb1tm1Efu/Itgb1tm1Efu,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0030251 broad frontonasal prominence "increased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0030269 absent mandibular ramus "absence of the upturned perpendicular extremity of the mandible" [MGI:anna]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0030276 anterior cranium occultum "presence of an abnormal skin-covered gap in the front of the head, usually due to increased distance between the frontal bones" [PMID:20106874]
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Allelic Composition: Kif3atm2Gsn/Kif3atm2Gsn,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020668 Kif3c / O35066 / Kinesin-like protein KIF3C / O14782* / kinesin family member 3C*  / complex / reaction
 ENSMUSG00000026585 Kifap3 / P70188 / Kinesin-associated protein 3 / Q92845*  / complex / reaction
 ENSMUSG00000018909 Arrb1 / Q8BWG8 / Beta-arrestin-1 / P49407* / arrestin beta 1*  / complex / reaction
 ENSMUSG00000027475 Kif3b / Q61771 / Kinesin-like protein KIF3B Kinesin-like protein KIF3B, N-terminally processed / O15066* / kinesin family member 3B*  / complex / reaction
 ENSMUSG00000001105 Ift20 / Q61025 / Intraflagellar transport / Q8IY31* / intraflagellar transport 20*  / reaction / complex
 ENSMUSG00000001761 Smo / P56726 / smoothened, frizzled class receptor / Q99835*  / complex / reaction
 ENSMUSG00000018395 Kif3a / P28741 / Kinesin-like protein KIF3A / Q9Y496* / kinesin family member 3A*  / complex / reaction
 ENSMUSG00000060216 Arrb2 / Q91YI4 / Beta-arrestin-2 / P32121* / arrestin beta 2*  / reaction / complex
 ENSMUSG00000019478 Rab4a / P56371 / Ras-related protein Rab-4A / P20338* / RAB4A, member RAS oncogene family*  / reaction / complex






 

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