ENSMUSG00000028344


Mus musculus

Features
Gene ID: ENSMUSG00000028344
  
Biological name :Invs
  
Synonyms : inversin isoform 2 / Invs
  
Possible biological names infered from orthology : inversin / Q9Y283
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: B1
Gene start: 48279760
Gene end: 48431954
  
Corresponding Affymetrix probe sets: 10504865 (MoGene1.0st)   1419308_at (Mouse Genome 430 2.0 Array)   1444709_at (Mouse Genome 430 2.0 Array)   1460491_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000030029
Ensembl peptide - ENSMUSP00000138580
NCBI entrez gene - 16348     See in Manteia.
MGI - MGI:1335082
RefSeq - XM_017319994
RefSeq - NM_001281977
RefSeq - NM_001281978
RefSeq - NM_010569
RefSeq - XM_006537633
RefSeq - XM_006537634
RefSeq - XM_006537635
RefSeq - XM_006537637
RefSeq - XM_011249937
RefSeq - XM_006537626
RefSeq - XM_006537629
RefSeq - XM_006537630
RefSeq - XM_006537631
RefSeq - XM_006537632
RefSeq Peptide - NP_001268906
RefSeq Peptide - NP_001268907
RefSeq Peptide - NP_034699
swissprot - S4R2B7
swissprot - A2AM57
Ensembl - ENSMUSG00000028344
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 invsENSDARG00000002213Danio rerio
 INVSENSGALG00000013441Gallus gallus
 INVSENSG00000119509Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ank2 / Q8C8R3 / Ankyrin-2 / Q01484*ENSMUSG0000003282623
Ank1 / Q02357 / Ankyrin-1 / P16157*ENSMUSG0000003154322
Ank3 / G5E8K5 / Ankyrin-3 / Q12955*ENSMUSG0000006960122
Q505D1 / Ankrd28 / Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A / O15084* / ankyrin repeat domain 28*ENSMUSG0000001449617
Q8BTI7 / Ankrd52 / Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C / Q8NB46* / ankyrin repeat domain 52*ENSMUSG0000001449817
B2RXR6 / Ankrd44 / Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B / Q8N8A2* / ankyrin repeat domain 44*ENSMUSG0000005233116
Tnks / Q6PFX9 / tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase / O95271* / tankyrase*ENSMUSG0000003152915
Tnks2 / Q3UES3 / Tankyrase-2 / Q9H2K2*ENSMUSG0000002481114
Ankrd65 / ankyrin repeat domain 65 / E5RJM6*ENSMUSG000000784879


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 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: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000522 cysts in kidney cortex "abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000531 right pulmonary isomerism "bilaterally symmetric right lung pattern (or altered asymmetric patterning of the lung)" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:58530]
Show

Allelic Composition: Foxj1tm1Bph/Foxj1tm1Bph
Genetic Background: involves: C57BL/6 * FVB/N

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 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]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Invsinv/Invs+
Genetic Background: FVB/N-Invsinv

 MP:0000611 jaundice "clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0002767 situs ambiguus "abnormal organ position" [J:62608]
Show

Allelic Composition: Foxc1tm1Blh/Foxc1+,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0003197 kidney calcification "pathologic deposition of calcium salts in the kidney" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Foxj1tm1Bph/Foxj1tm1Bph,Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004159 double aortic arch "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004194 abnormal kidney pelvis morphology "any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004860 dilated kidney collecting duct "stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005083 abnormal biliary tract morphology "anomalous structure or development of the gall bladder or its ducts " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005491 islet cell hyperplasia "increased numbers cells within the structures that are scattered throughout the pancreas and comprise its endocrine portion" [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006062 abnormal vena cava morphology "structural malformation of either of the two largest veins in the body " [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0006117 aortic valve stenosis "abnormal narrowing of the aortic valve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0008461 left atrial isomerism "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 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: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008933 abnormal embryonic cilium physiology "any functional anomaly of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009050 dilated proximal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009144 dilated pancreatic duct "an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A03.734.667]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009145 abnormal pancreatic acinus morphology "any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009146 abnormal pancreatic acinar cell morphology "any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009149 decreased pancreatic acinar cell number "reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009254 disorganized pancreatic islets "derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010431 atrial situs inversus "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 MP:0010541 aorta hypoplasia "underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Foxj1tm1Bph/Foxj1tm1Bph,Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

Allelic Composition: Foxj1tm1Bph/Foxj1tm1Bph,Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0010854 lung situs inversus "anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

Allelic Composition: Invsinv/Invsinv
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0011250 abdominal situs ambiguus "an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396]
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Allelic Composition: Invsinv/Invsinv
Genetic Background: FVB/N-Invsinv

 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: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011308 kidney corticomedullary cysts "development of abnormal membranous sacs in the corticomedullary junction of the kidney" [MGI:anna]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011341 abnormal loop of Henle descending limb morphology "any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure" [MGI:anna]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011344 abnormal loop of Henle ascending limb thick segment morphology "any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule" [MGI:anna]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011352 proximal convoluted tubule brush border loss "attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes" [MGI:anna]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011425 abnormal kidney interstitium morphology "any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure" [MGI:anna]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011501 increased glomerular capsule space "increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011682 renal glomerulus cysts "abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012027 abnormal embryonic cilium location or orientation "embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern" [MGI:csmith]
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Allelic Composition: Itgb1bp2tm1Tron/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


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






 

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