ENSMUSG00000019971


Mus musculus

Features
Gene ID: ENSMUSG00000019971
  
Biological name :Cep290
  
Synonyms : Centrosomal protein of 290 kDa / Cep290 / Q6A078
  
Possible biological names infered from orthology : centrosomal protein 290 / O15078
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: D1
Gene start: 100487558
Gene end: 100574840
  
Corresponding Affymetrix probe sets: 10366073 (MoGene1.0st)   1425642_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000151414
Ensembl peptide - ENSMUSP00000151712
Ensembl peptide - ENSMUSP00000130899
Ensembl peptide - ENSMUSP00000151388
NCBI entrez gene - 216274     See in Manteia.
MGI - MGI:2384917
RefSeq - XM_006513526
RefSeq - XM_006513527
RefSeq - XM_006513528
RefSeq - NM_146009
RefSeq Peptide - NP_666121
swissprot - Q6A078
swissprot - A0A1W2P6U7
swissprot - E9Q9M0
Ensembl - ENSMUSG00000019971
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cep290ENSDARG00000062727Danio rerio
 CEP290ENSGALG00000011177Gallus gallus
 CEP290ENSG00000198707Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026201  Centrosomal protein of 290kDa
 IPR032321  Centrosomal protein of 290kDa, coiled-coil region


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007163 establishment or maintenance of cell polarity IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0015031 protein transport IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030814 obsolete regulation of cAMP metabolic process IMP
 biological_processGO:0030902 hindbrain development ISS
 biological_processGO:0030916 otic vesicle formation ISS
 biological_processGO:0042462 eye photoreceptor cell development ISS
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0048793 pronephros development ISS
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0070201 regulation of establishment of protein localization ISO
 biological_processGO:0090316 positive regulation of intracellular protein transport ISO
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0000930 gamma-tubulin complex ISS
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0034451 centriolar satellite ISS
 cellular_componentGO:0035869 ciliary transition zone ISO
 cellular_componentGO:0036038 MKS complex IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding ISO


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Neutrophil degranulation
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000542 left-sided isomerism "the relative symmetry of the organs of the thorax and abdomen as indicated by both atria displaying the morphology of the left atrium" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of 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 and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: involves: 129

 MP:0000864 abnormal vermis "malformation in the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: involves: 129

 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dhx9Tn(pb-Act-RFP)1.071225026-HRAZhu/Dhx9+,Igs12tm1Zhu/Igs12tm1Zhu,Ptprca/Ptprcb,Tg(Lck-cre)#Zhu/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/NJ * SJL/J

 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: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: B6.129-Cep290tm1.1Jgg

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: involves: 129

Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: B6.129-Cep290tm1.1Jgg

Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0001426 polydipsia "excessive thirst that is relatively prolonged" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lamb3tm1.1Hosc/Lamb3tm1.1Hosc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 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: Lamb3tm1.1Hosc/Lamb3tm1.1Hosc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: B6.129-Cep290tm1.1Jgg

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: B6.129-Cep290tm1.1Jgg

 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: Rps6ka3tm1.1Kry/Y
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Cep290tm2.1Rwjc/Cep290tm2.1Rwjc
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0003342 accessory spleen "the splenic tissue is divided into equal masses; often related to situs inversus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 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: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Dhx9Tn(pb-Act-RFP)1.071225026-HRAZhu/Dhx9+,Igs12tm1Zhu/Igs12tm1Zhu,Ptprca/Ptprcb,Tg(Lck-cre)#Zhu/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/NJ * SJL/J

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

Allelic Composition: Cep290rd16/Cep290rd16,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0004512 anosmia "loss of the sense of smell" [mberry:Melissa Berry_Genetic Resources Curator]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004754 abnormal kidney collecting duct "any structural anomaly of the duct that drains fluid from the nephron and either allows bodily reabsorbtion of water or allows the fluid to drain to the bladder via the ureter; the collecting duct system also maintains acid-base homeostasis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0006063 abnormal inferior vena cava morphology "structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0008057 abnormal DNA replication "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

Allelic Composition: Cep290rd16/Cep290rd16,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

 MP:0008451 retinal rod cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: B6.129-Cep290tm1.1Jgg

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 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: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0008540 abnormal cerebrum morphology "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290rd16/Cep290rd16
Genetic Background: involves: BXD24/TyJ * C57BL/6

 MP:0008789 abnormal olfactory epithelium morphology "any structural anomaly in the epithelial cells that line the interior of the nose" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic Background: involves: 129

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0010419 inlet ventricular septal defect "abnormal communications between the two lower chambers of the heart, located posterior to the septal leaflet of the tricuspid valve and which are not associated with defects of the atrioventricular valves" [http://emedicine.medscape.com]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 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: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

 MP:0011665 d-loop transposition of the great arteries "complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing" [PMID:17159076]
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Allelic Composition: Cep290b2b1752Clo/Cep290b2b1752Clo
Genetic Background: C57BL/6J-Cep290b2b1752Clo

 MP:0011682 renal glomerulus cysts "abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0011683 dual inferior vena cava "presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein" [MGI:csmith, PMID:10835118]
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Allelic Composition: Dnah11b2b1289Clo/Dnah11b2b1289Clo
Genetic Background: C57BL/6J-Dnah11b2b1289Clo

 MP:0012671 retinal spots "the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits" [MGI:csmith]
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Allelic Composition: Insrtm1Khn/Insrtm1Khn,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S4/SvJae * 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: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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