ENSMUSG00000021313


Mus musculus

Features
Gene ID: ENSMUSG00000021313
  
Biological name :Ryr2
  
Synonyms : E9Q401 / ryanodine receptor 2, cardiac / Ryr2
  
Possible biological names infered from orthology : Q92736 / ryanodine receptor 2
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: A1
Gene start: 11553102
Gene end: 12106945
  
Corresponding Affymetrix probe sets: 10407598 (MoGene1.0st)   1421126_at (Mouse Genome 430 2.0 Array)   1450123_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000152669
Ensembl peptide - ENSMUSP00000127991
Ensembl peptide - ENSMUSP00000152051
Ensembl peptide - ENSMUSP00000152510
Ensembl peptide - ENSMUSP00000021750
NCBI entrez gene - 20191     See in Manteia.
MGI - MGI:99685
RefSeq - XM_017315461
RefSeq - XM_017315452
RefSeq - XM_017315453
RefSeq - XM_017315454
RefSeq - XM_017315455
RefSeq - XM_017315456
RefSeq - XM_017315460
RefSeq - NM_023868
RefSeq - XM_006516610
RefSeq - XM_011244296
RefSeq - XM_017315445
RefSeq - XM_017315446
RefSeq - XM_017315447
RefSeq - XM_017315448
RefSeq - XM_017315449
RefSeq - XM_017315450
RefSeq - XM_017315451
RefSeq Peptide - NP_076357
swissprot - E9Q401
swissprot - F6U7V1
swissprot - A0A1Y7VK09
swissprot - A0A1Y7VJP1
swissprot - Q80ZZ5
Ensembl - ENSMUSG00000021313
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 RYR2ENSDARG00000098856Danio rerio
 RYR2ENSGALG00000010812Gallus gallus
 RYR2ENSG00000198626Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ryr3 / A2AGL3 / Ryanodine receptor 3 / Q15413*ENSMUSG0000005737868
Ryr1 / E9PZQ0 / Ryanodine receptor 1 / P21817*ENSMUSG0000003059266
Itpr1 / P11881 / Inositol 1,4,5-trisphosphate receptor type 1 / Q14643*ENSMUSG0000003010214
Itpr3 / P70227 / Inositol 1,4,5-trisphosphate receptor type 3 / Q14573*ENSMUSG0000004264413
Itpr2 / Q9Z329 / Inositol 1,4,5-trisphosphate receptor type 2 / Q14571*ENSMUSG0000003028713


Protein motifs (from Interpro)
Interpro ID Name
 IPR000699  RIH domain
 IPR001870  B30.2/SPRY domain
 IPR002048  EF-hand domain
 IPR003032  Ryanodine receptor Ryr
 IPR003877  SPRY domain
 IPR005821  Ion transport domain
 IPR009460  Ryanodine Receptor TM 4-6
 IPR011992  EF-hand domain pair
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR013333  Ryanodine receptor
 IPR013662  RyR/IP3R Homology associated domain
 IPR014821  Inositol 1,4,5-trisphosphate/ryanodine receptor
 IPR015925  Ryanodine receptor-related
 IPR016093  MIR motif
 IPR035761  Ryanodine receptor, SPRY domain 1
 IPR035762  Ryanodine receptor, SPRY domain 3
 IPR035764  Ryanodine receptor, SPRY domain 2
 IPR035910  RyR/IP3 receptor binding core, RIH domain superfamily
 IPR036300  Mir domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0002027 regulation of heart rate IEA
 biological_processGO:0003143 embryonic heart tube morphogenesis IMP
 biological_processGO:0003220 left ventricular cardiac muscle tissue morphogenesis IMP
 biological_processGO:0003300 cardiac muscle hypertrophy IMP
 biological_processGO:0005513 detection of calcium ion IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0010460 positive regulation of heart rate IMP
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IGI
 biological_processGO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IEA
 biological_processGO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
 biological_processGO:0014850 response to muscle activity IEA
 biological_processGO:0019722 calcium-mediated signaling IMP
 biological_processGO:0030509 BMP signaling pathway IDA
 biological_processGO:0031000 response to caffeine IEA
 biological_processGO:0035584 calcium-mediated signaling using intracellular calcium source IEA
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051284 positive regulation of sequestering of calcium ion IEA
 biological_processGO:0051775 response to redox state IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0055117 regulation of cardiac muscle contraction IEA
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IDA
 biological_processGO:0060401 cytosolic calcium ion transport IMP
 biological_processGO:0060402 calcium ion transport into cytosol IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0071313 cellular response to caffeine IEA
 biological_processGO:0071872 cellular response to epinephrine stimulus IMP
 biological_processGO:0072599 establishment of protein localization to endoplasmic reticulum IEA
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IMP
 biological_processGO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling IMP
 biological_processGO:0097050 type B pancreatic cell apoptotic process IMP
 biological_processGO:0098735 positive regulation of the force of heart contraction IEA
 biological_processGO:0098904 regulation of AV node cell action potential IEA
 biological_processGO:0098907 regulation of SA node cell action potential IEA
 biological_processGO:0098910 regulation of atrial cardiac muscle cell action potential IEA
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IEA
 biological_processGO:1901896 positive regulation of calcium-transporting ATPase activity IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005790 smooth endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum ISO
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:0034704 calcium channel complex IDA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005219 ryanodine-sensitive calcium-release channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding ISO
 molecular_functionGO:0015278 calcium-release channel activity IDA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0034236 protein kinase A catalytic subunit binding IEA
 molecular_functionGO:0034237 protein kinase A regulatory subunit binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043621 protein self-association IMP
 molecular_functionGO:0043924 suramin binding IEA
 molecular_functionGO:0048763 calcium-induced calcium release activity IEA
 molecular_functionGO:0097159 organic cyclic compound binding IPI


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
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: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

Allelic Composition: Ryr2tm1.1Msnr/Ryr2+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Cd247tm1Mhu/Cd247tm1Mhu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

Allelic Composition: Ryr2tm3.1Amks/Ryr2+
Genetic Background: involves: C57BL/6

Allelic Composition: Ryr2tm4.1Amks/Ryr2+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000343 altered response to myocardial infarction "change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Igf2rtm1Wag/Igf2rtm1Wag
Genetic Background: involves: 129S2/SvPas

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0001488 increased startle reflex "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rxfp2tm1b(EUCOMM)Wtsi/Rxfp2tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rxfp2tm1b(EUCOMM)Wtsi/Ieg

 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: Secisbp2tm1d(EUCOMM)Wtsi/Secisbp2tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

Allelic Composition: Ryr2tm2.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

 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: Kcnd2tm1Jmn/Kcnd2tm1Jmn
Genetic Background: FVB.129-Kcnd2tm1Jmn

Allelic Composition: Ryr2tm1Slh/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ryr2tm1.1Clhh/Ryr2+
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm1.1Clhh/Ryr2tm1.1Clhh
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm2Hhv/Ryr2+
Genetic Background: involves: 129 * C57BL/6

 MP:0001855 atrial thrombosis "formation or presence of a thrombus in the atria of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Suds3tm1.1Rdp/Suds3+,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB

Allelic Composition: Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs/Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs,Trp53tm1Sia/Trp53+
Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

 MP:0002036 rhabdomyosarcoma "malignant tumor derived from skeletal (striated) muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs/Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs,Trp53tm1Sia/Trp53tm1Sia
Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs/Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs,Trp53tm1Sia/Trp53+
Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

 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: Thrbtm1Mkni/Thrb+,Hprttm1(TG-cre)1Sasr/Y
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ryr2tm1Krbr/Ryr2tm3.1Swch,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 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: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0002189 abnormal myocardial trabeculae morphology "malformation of the supporting bundles of muscular fibers lining the walls of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0002190 disorganized myocardium "malformed or poorly developed cardiac muscle layers" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67044]
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Allelic Composition: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0002220 large lymphoid organs "increased size of lymphatic tissues" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0002357 abnormal spleen white pulp morphology "anomalous structure or formation of the splenic area consisting of lymph nodules and diffuse lymphatic tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 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: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0002626 increased heart rate "greater than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Gata4tm1.2Sad/Gata4tm1.2Sad,Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic Background: involves: 129

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

 MP:0002953 thick ventricular wall "increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

 MP:0002972 abnormal cardiac muscle contractility "altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ryr2tm2.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0003057 abnormal epicardium morphology "anomalous structure of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0003393 decreased cardiac output "reduction in the blood volume pumped by each ventricle per minute" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0003920 abnormal right ventricle morphology "structural anomaly of the right lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

 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: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gata4tm1.2Sad/Gata4tm1.2Sad,Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic Background: involves: 129

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

 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: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

 MP:0004088 abnormal sarcoplasmic reticulum morphology "any structural abnormality in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Rapgef3tm1.2Chen/Rapgef3tm1.2Chen,Rapgef4tm1.2Chen/Rapgef4tm1.2Chen
Genetic Background: involves: 129 * Black Swiss * C57BL/6 * SJL

Allelic Composition: Ryr2tm3.1Amks/Ryr2+
Genetic Background: involves: C57BL/6

Allelic Composition: Ryr2tm4.1Amks/Ryr2+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004122 sinus arrhythmia "irregular heartbeat related to abnormal function of the sinoatrial node" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1.2Sad/Gata4tm1.2Sad,Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic Background: involves: 129

 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: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ryr2tm1Slh/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

Allelic Composition: Ryr2tm1.1Maya/Ryr2+
Genetic Background: C57BL/6J-Ryr2tm1.1Maya

Allelic Composition: Ryr2tm1.1Clhh/Ryr2+
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm1.1Clhh/Ryr2tm1.1Clhh
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm2.1Maya/Ryr2+
Genetic Background: involves: C57BL/6J

Allelic Composition: Ryr2tm2Hhv/Ryr2+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ryr2tm2.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Ryr2tm3.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Ryr2tm3.1Hhv/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004484 altered response of heart to induced stress "change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pdx1tm1Cvw/Pdx1tm1.1Stof
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr2tm1Slh/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004485 increased response of heart to induced stress "increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

Allelic Composition: Ryr2tm1.1Wex/Ryr2tm1.1Wex
Genetic Background: B6.129S7-Ryr2tm1.1Wex

 MP:0004510 myositis "inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]
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Allelic Composition: Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs/Ryr2tm1(CAG-KRAS*G12V,-lacZ)Nobs,Trp53tm1Sia/Trp53tm1Sia
Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

 MP:0004952 increased spleen weight "greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0004955 increased thymus weight "greater than average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

 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: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Liz/H2-DMatm1Liz
Genetic Background: involves: 129S/SvEv * BALB/c

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0005232 abnormal mesenteric lymph node morphology "anomalous structure, development, or number of the lymph nodes located in the mesentary, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Liz/H2-DMatm1Liz
Genetic Background: involves: 129S/SvEv * BALB/c

Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Ryr2tm1Krbr/Ryr2tm3.1Swch,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Ryr2tm3.1Hhv/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0005598 decreased ventricle muscle contractility "reduced 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: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0006110 ventricular fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Kcnd2tm1Jmn/Kcnd2tm1Jmn
Genetic Background: FVB.129-Kcnd2tm1Jmn

Allelic Composition: Ryr2tm3.1Hhv/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0008466 enlarged mesenteric lymph nodes "increased size of the lymph nodes located in the mesentary, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0008543 atrial fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm3.1Amks/Ryr2+
Genetic Background: involves: C57BL/6

Allelic Composition: Ryr2tm4.1Amks/Ryr2+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1.2Sad/Gata4tm1.2Sad,Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic Background: involves: 129

 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: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

 MP:0008873 increased sensitivity to xenobiotics "decrease in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm1.1Maya/Ryr2+
Genetic Background: C57BL/6J-Ryr2tm1.1Maya

Allelic Composition: Ryr2tm1.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0008950 ventricular tachycardia "paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Kcnd2tm1Jmn/Kcnd2tm1Jmn
Genetic Background: FVB.129-Kcnd2tm1Jmn

Allelic Composition: Ryr2tm1Slh/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

Allelic Composition: Ryr2tm1.1Maya/Ryr2+
Genetic Background: C57BL/6J-Ryr2tm1.1Maya

Allelic Composition: Ryr2tm1.1Swch/Ryr2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Ryr2tm1.1Clhh/Ryr2+
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm1.1Clhh/Ryr2tm1.1Clhh
Genetic Background: 129S/SvEv-Ryr2tm1.1Clhh

Allelic Composition: Ryr2tm2.1Maya/Ryr2+
Genetic Background: involves: C57BL/6J

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex,Tg(Myh6-EGFP/AC3I)#Mean/0
Genetic Background: B6.Cg-Ryr2tm2.1Wex Tg(Myh6-EGFP/AC3I)#Mean

Allelic Composition: Ryr2tm1.1Wex/Ryr2tm1.1Wex
Genetic Background: B6.129S7-Ryr2tm1.1Wex

 MP:0009559 thymus cortex hyperplasia "overdevelopment or increased size, usually due to an increased cell number, of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes" [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: Ceacam16tm1(KOMP)Wtsi/Ceacam16tm1(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N

 MP:0009732 ventricular premature beat "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm1Slh/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

Allelic Composition: Ryr2tm2Hhv/Ryr2+
Genetic Background: involves: 129 * C57BL/6

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm2Amks/Ryr2+
Genetic Background: B6.129-Ryr2tm2Amks

Allelic Composition: Ryr2tm2.1Wex/Ryr2tm2.1Wex
Genetic Background: B6.129S7-Ryr2tm2.1Wex

 MP:0010505 abnormal T wave "any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0010637 sinus bradycardia "a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0010724 thick interventricular septum "increased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata3tm1.1Gan/Gata3tm1.1Gan,Tg(Pax2-cre)1Akg/0
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

 MP:0010725 thin interventricular septum "decreased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Pik3catm1Nbm/Pik3catm1Nbm
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Ryr2tm3.1Hhv/Ryr2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Ryr2tm2Hhv/Ryr2+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ryr2tm3.1Swch/Ryr2tm3.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ryr2tm2.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Rxfp2tm1b(EUCOMM)Wtsi/Rxfp2tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rxfp2tm1b(EUCOMM)Wtsi/Ieg

 MP:0011109 partial lethality throughout fetal growth and development "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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Gata4tm1.2Sad/Gata4tm1.2Sad,Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic Background: involves: 129

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Rxfp2tm1b(EUCOMM)Wtsi/Rxfp2tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rxfp2tm1b(EUCOMM)Wtsi/Ieg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021313 Ryr2 / E9Q401 / ryanodine receptor 2, cardiac / Q92736* / ryanodine receptor 2*  / complex






 

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