ENSMUSG00000054640


Mus musculus

Features
Gene ID: ENSMUSG00000054640
  
Biological name :Slc8a1
  
Synonyms : Slc8a1 / solute carrier family 8 (sodium/calcium exchanger), member 1
  
Possible biological names infered from orthology : P32418 / solute carrier family 8 member A1
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: E3
Gene start: 81388691
Gene end: 81649607
  
Corresponding Affymetrix probe sets: 10453233 (MoGene1.0st)   1420210_at (Mouse Genome 430 2.0 Array)   1425817_a_at (Mouse Genome 430 2.0 Array)   1437675_at (Mouse Genome 430 2.0 Array)   1440201_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000083725
Ensembl peptide - ENSMUSP00000126373
Ensembl peptide - ENSMUSP00000132809
NCBI entrez gene - 20541     See in Manteia.
MGI - MGI:107956
RefSeq - XM_006523944
RefSeq - XM_006523938
RefSeq - XM_006523939
RefSeq - XM_006523940
RefSeq - XM_006523941
RefSeq - XM_006523942
RefSeq - XM_006523943
RefSeq - NM_001112798
RefSeq - NM_001286684
RefSeq - NM_011406
RefSeq - XM_006523932
RefSeq - XM_006523933
RefSeq - XM_006523934
RefSeq - XM_006523935
RefSeq - XM_006523936
RefSeq - XM_006523937
RefSeq Peptide - NP_035536
RefSeq Peptide - NP_001106269
RefSeq Peptide - NP_001273613
swissprot - G5E8Y0
swissprot - Q68FL0
swissprot - G3X9J1
Ensembl - ENSMUSG00000054640
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc8a1aENSDARG00000013422Danio rerio
 slc8a1bENSDARG00000043406Danio rerio
 SLC8A1ENSGALG00000008544Gallus gallus
 P32418ENSG00000183023Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
S4R2P9 / Slc8a3 / solute carrier family 8 (sodium/calcium exchanger), member 3 / P57103* / solute carrier family 8 member A3*ENSMUSG0000007905569
Q8K596 / Slc8a2 / solute carrier family 8 (sodium/calcium exchanger), member 2 / Q9UPR5* / solute carrier family 8 member A2*ENSMUSG0000003037663
Adgrv1 / Q8VHN7 / adhesion G protein-coupled receptor V1 / Q8WXG9*ENSMUSG0000006917027


Protein motifs (from Interpro)
Interpro ID Name
 IPR001623  DnaJ domain
 IPR002987  Sodium/calcium exchanger, isoform 1
 IPR003644  Na-Ca exchanger/integrin-beta4
 IPR004836  Sodium/calcium exchanger protein
 IPR004837  Sodium/calcium exchanger membrane region
 IPR032452  Sodium/calcium exchanger domain, C-terminal extension


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0002028 regulation of sodium ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006883 cellular sodium ion homeostasis IEA
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0010763 positive regulation of fibroblast migration IEA
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA
 biological_processGO:0021537 telencephalon development IEA
 biological_processGO:0030501 positive regulation of bone mineralization IEA
 biological_processGO:0033198 response to ATP IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0035902 response to immobilization stress IEA
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0036376 sodium ion export across plasma membrane IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0051924 regulation of calcium ion transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060402 calcium ion transport into cytosol IEA
 biological_processGO:0070509 calcium ion import IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0086064 cell communication by electrical coupling involved in cardiac conduction IEA
 biological_processGO:0098719 sodium ion import across plasma membrane IEA
 biological_processGO:0098735 positive regulation of the force of heart contraction IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0043198 dendritic shaft IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0005432 calcium:sodium antiporter activity IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030506 ankyrin binding IEA
 molecular_functionGO:0099580 ion antiporter activity involved in regulation of postsynaptic membrane potential IEA


Pathways (from Reactome)
Pathway description
Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
Ion homeostasis


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]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Myl2tm1(cre)Krc/Myl2+,Slc8a1tm1Kdp/Slc8a1tm1Kdp
Genetic Background: involves: 129S4/SvJae

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000298 absent endocardial cushion "absence of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [MGI:CLS]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000740 impaired smooth muscle contractility "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Trp53Bbl/Trp53+
Genetic Background: C57BL/6JSfdAnu-Trp53Bbl/Anu

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001633 poor circulation "insufficient movement of blood throughout the body" [MGI:cls, J:45302]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0002078 abnormal glucose homeostasis "anomaly in the state of equilibrium or processing in the body with respect to glucose in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tmem79ma/Tmem79ma
Genetic Background: involves: C57BL/Gr * CBA/CaGr

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002693 abnormal pancreas physiology "abberrant function of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0003058 increased insulin secretion "greater than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003222 increased cardiomyocyte apoptosis "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003231 abnormal placental vasculature "malformation in the vessels of the placenta" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0003403 absent placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:73417]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0003819 increased left ventricle diastolic pressure "increase in the pressure in the left ventricle between heart beats when the heart is relaxed" [RGD:Rat Genome Database submission]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003820 increased left ventricle systolic pressure "increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries" [RGD:Rat Genome Database submission]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004084 abnormal cardiac muscle relaxation "altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004086 absent heartbeat "lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)" [J:69362, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004092 absent Z lines "missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Myl2tm1(cre)Krc/Myl2+,Slc8a1tm1Kdp/Slc8a1tm1Kdp
Genetic Background: involves: 129S4/SvJae

 MP:0004567 decreased myocardial fiber number "decreased number of cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Myl2tm1(cre)Krc/Myl2+,Slc8a1tm1Kdp/Slc8a1tm1Kdp
Genetic Background: involves: 129S4/SvJae

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0005600 increased ventricle muscle contractility "greater thant the normal ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0006343 enlarged first branchial arch "increased size of the first branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0008028 pregnancy-related premature death "death occuring before the normal life span of an organism, occuring during pregnancy, parturition or lactation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Myl2tm1(cre)Krc/Myl2+,Slc8a1tm1Kdp/Slc8a1tm1Kdp
Genetic Background: involves: 129S4/SvJae

 MP:0008788 abnormal fetal cardiomyocyte morphology "any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [PMID:17429040]
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Allelic Composition: Trp53Bbl/Trp53+
Genetic Background: C57BL/6JSfdAnu-Trp53Bbl/Anu

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0009113 increased pancreatic beta cell mass "greater total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0010148 abnormal exocrine pancreas physiology "any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes" [MESH:A03.734.540, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 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: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm2Kdp/Slc8a1tm2Kdp
Genetic Background: involves: 129S4/SvJae * Black Swiss

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0011632 dilated mitochondria "the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0011633 abnormal mitochondrial shape "any anomaly in the characteristic surface outline or contour of a mitochondria" [MGI:csmith]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0011635 abnormal mitochondrial crista morphology "Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria" [GO:0030061]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0011637 abnormal mitochondrial matrix morphology "any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation" [GO:0005759]
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Allelic Composition: Slc8a1tm1Yin/Slc8a1tm1Yin
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0011819 increased pancreatic beta cell proliferation "increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division" [CL:0000169]
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Allelic Composition: Ptpn2tm2.1Ttig/Ptpn2tm2.1Ttig
Genetic Background: B6.Cg-Ptpn2tm2.1Ttig

 MP:0012127 absent placenta hemotrichorial membrane "absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses" [MGI:anna]
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Allelic Composition: Slc8a1m51207Hubr/Slc8a1m51207Hubr
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0013241 embryo tissue necrosis "morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage" [MGI:csmith]
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Allelic Composition: Foxb1tm1Pgr/Foxb1tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

  


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






 

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