ENSMUSG00000054808


Mus musculus

Features
Gene ID: ENSMUSG00000054808
  
Biological name :Actn4
  
Synonyms : Actn4 / Alpha-actinin-4 / P57780
  
Possible biological names infered from orthology : actinin alpha 4 / O43707
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B1
Gene start: 28893248
Gene end: 28962340
  
Corresponding Affymetrix probe sets: 10561527 (MoGene1.0st)   1423449_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000066068
Ensembl peptide - ENSMUSP00000151188
Ensembl peptide - ENSMUSP00000151028
Ensembl peptide - ENSMUSP00000123210
Ensembl peptide - ENSMUSP00000122268
Ensembl peptide - ENSMUSP00000115436
NCBI entrez gene - 60595     See in Manteia.
MGI - MGI:1890773
RefSeq - NM_021895
RefSeq - XM_006540257
RefSeq - XM_006540256
RefSeq - XM_006540255
RefSeq - XM_006540254
RefSeq Peptide - NP_068695
swissprot - E9Q2W9
swissprot - P57780
swissprot - Q3ULT2
swissprot - A0A1L1SV25
swissprot - A0A1L1SVJ6
swissprot - D3Z0L8
swissprot - D3Z761
Ensembl - ENSMUSG00000054808
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 actn4ENSDARG00000099786Danio rerio
 ACTN4ENSG00000130402Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Actn1 / Q7TPR4 / Mus musculus actinin, alpha 1 (Actn1), transcript variant 2, mRNA. / P12814* / actinin alpha 1*ENSMUSG0000001514384
Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*ENSMUSG0000005237476
Actn3 / O88990 / Alpha-actinin-3 / Q08043* / actinin alpha 3 (gene/pseudogene)*ENSMUSG0000000645773
Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*ENSMUSG0000002031531
Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*ENSMUSG0000006788930
Sptb / spectrin beta, erythrocytic / P11277*ENSMUSG0000002106129
Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*ENSMUSG0000001175129
P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*ENSMUSG0000005773819
Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*ENSMUSG0000002653216


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR018247  EF-Hand 1, calcium-binding site
 IPR029637  Alpha-actinin-4
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030050 vesicle transport along actin filament IEA
 biological_processGO:0030335 positive regulation of cell migration IEA
 biological_processGO:0035357 peroxisome proliferator activated receptor signaling pathway IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0048384 retinoic acid receptor signaling pathway IEA
 biological_processGO:0048549 positive regulation of pinocytosis IMP
 biological_processGO:0051017 actin filament bundle assembly IDA
 biological_processGO:0051271 negative regulation of cellular component movement IDA
 biological_processGO:0051272 positive regulation of cellular component movement IMP
 biological_processGO:0070830 bicellular tight junction assembly IMP
 biological_processGO:1900025 negative regulation of substrate adhesion-dependent cell spreading IEA
 biological_processGO:1901224 positive regulation of NIK/NF-kappaB signaling IEA
 biological_processGO:1902396 protein localization to bicellular tight junction IMP
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0001725 stress fiber IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030863 cortical cytoskeleton IDA
 cellular_componentGO:0031143 pseudopodium IDA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0001882 nucleoside binding IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030374 nuclear receptor transcription coactivator activity IEA
 molecular_functionGO:0031490 chromatin DNA binding IEA
 molecular_functionGO:0035257 nuclear hormone receptor binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0042974 retinoic acid receptor binding IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 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]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 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]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0000523 cortical glomerulopathies "any disease of the capillary plexus in the kidney cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:63229]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000602 enlarged sinusoidal spaces "larger than normal sized cavities in the liver " [J:23170]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0001014 absent superior cervical ganglion "missing group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17792]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0001015 small superior cervical ganglion "reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:23882]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gt(ROSA)26Sorem1(CAG-cas9*,-EGFP)Rsky/Gt(ROSA)26Sor+
Genetic Background: C57BL/6N-Gt(ROSA)26Sorem1(CAG-cas9*,-EGFP)Rsky

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002725 abnormal vein morphology "malformation of the blood vessels that carry blood towards the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002959 increased microalbumin excretion "greater than the normal amount of fragments of this protein voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Actn4tm1.1Plk/Actn4tm1.1Plk
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003237 abnormal lens epithelium morphology "malformation in the one or more of the layers of epithelial cells in the lens" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93301]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0003266 biliary cysts "the appearance of fluid-filled sacs within the bile ducts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

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

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003686 abnormal eye muscle morphology "malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0003826 abnormal Mullerian duct morphology "malformation of the transient embryonic tubes that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0004269 abnormal optic cup morphology "any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0004666 absent stapedial artery "absence of the small artery that passes through the ring of the stapes" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0004969 pale kidney "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sorem1(CAG-cas9*,-EGFP)Rsky/Gt(ROSA)26Sor+
Genetic Background: C57BL/6N-Gt(ROSA)26Sorem1(CAG-cas9*,-EGFP)Rsky

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005265 abnormal blood urea nitrogen level "aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: Bdnftm1Jae/Bdnftm1Jae
Genetic Background: involves: 129S4/SvJae * BALB/c

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
Show

Allelic Composition: Bdnftm1Jae/Bdnftm1Jae
Genetic Background: involves: 129S4/SvJae * BALB/c

 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]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0006093 arteriovenous malformation "fusion of an artery and vein without an intervening capillary bed" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93125]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Actn4tm1.1Plk/Actn4tm1.1Plk
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0011090 partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Actn4tm1.1Plk/Actn4tm1.1Plk
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ

 MP:0011110 partial preweaning 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 weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0011320 abnormal glomerular capillary morphology "any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus" [MGI:csmith]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011348 abnormal renal glomerulus basement membrane morphology "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011753 decreased podocyte number "reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle" [MGI:anna]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011826 increased lymphocyte chemotaxis "any anomaly in the directed movement of a lymphocyte in response to an external stimulus" [GO:0048247]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011864 abnormal podocyte adhesion "any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress" [MGI:anna]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011869 detached podocyte "detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine" [MGI:anna]
Show

Allelic Composition: Hey2tm1Mtc/Hey2tm1Mtc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0013824 abnormal hypoglossal canal morphology "any structural anomaly of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull" [ISBN:0683400088]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013825 small hypoglossal canal "reduced size of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull" [ISBN:0683400088]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013826 absent hypoglossal canal "absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull" [ISBN:0683400088]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013834 thin hypoglossal nerve "slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013835 absent hypoglossal nerve "absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013836 abnormal hypoglossal nerve topology "abnormal position of the hypoglossal nerve " [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013848 subcutaneous edema "accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013875 trigeminal neuroma 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013876 absent ductus venosus valve "absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013877 abnormal ductus venosus valve morphology "any structural anomaly of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013878 abnormal ductus venosus valve topology "abnormal position of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013967 abnormal infrahyoid muscle connection 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013968 multiple persisting craniopharyngeal ducts 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013971 blood in lymph vessels 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013975 abnormal coronary sinus connection 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013992 persistent dorsal ophthalmic artery 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0014018 embryo tumor "presence of an unspecified tumor or aberrant growth in a prenatal orgnaism" [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0014021 heterochrony 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0014023 abnormal intestine placement 
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr