ENSMUSG00000030592


Mus musculus

Features
Gene ID: ENSMUSG00000030592
  
Biological name :Ryr1
  
Synonyms : E9PZQ0 / Ryanodine receptor 1 / Ryr1
  
Possible biological names infered from orthology : P21817
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B1
Gene start: 29003344
Gene end: 29125179
  
Corresponding Affymetrix probe sets: 10561561 (MoGene1.0st)   1427306_at (Mouse Genome 430 2.0 Array)   1457347_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000149042
Ensembl peptide - ENSMUSP00000032813
Ensembl peptide - ENSMUSP00000137123
NCBI entrez gene - 20190     See in Manteia.
MGI - MGI:99659
RefSeq - XM_017322057
RefSeq - XM_017322053
RefSeq - XM_017322054
RefSeq - XM_017322055
RefSeq - XM_017322056
RefSeq - NM_009109
RefSeq - XM_006539688
RefSeq - XM_006539689
RefSeq - XM_006539692
RefSeq - XM_017322051
RefSeq - XM_017322052
RefSeq Peptide - NP_033135
swissprot - K3W4M2
swissprot - E9PZQ0
swissprot - A0A1L1SQG7
Ensembl - ENSMUSG00000030592
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ryr1aENSDARG00000011422Danio rerio
 ryr1bENSDARG00000023797Danio rerio
 RYR1ENSG00000196218Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ryr3 / A2AGL3 / Ryanodine receptor 3 / Q15413*ENSMUSG0000005737865
Ryr2 / E9Q401 / ryanodine receptor 2, cardiac / Q92736* / ryanodine receptor 2*ENSMUSG0000002131365
Itpr3 / P70227 / Inositol 1,4,5-trisphosphate receptor type 3 / Q14573*ENSMUSG0000004264413
Itpr2 / Q9Z329 / Inositol 1,4,5-trisphosphate receptor type 2 / Q14571*ENSMUSG0000003028713
Itpr1 / P11881 / Inositol 1,4,5-trisphosphate receptor type 1 / Q14643*ENSMUSG0000003010213


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
 IPR033215  Ryanodine receptor 1
 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 IEA
 biological_processGO:0003151 outflow tract morphogenesis IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006936 muscle contraction IMP
 biological_processGO:0006937 regulation of muscle contraction TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
 biological_processGO:0043588 skin development IMP
 biological_processGO:0043931 ossification involved in bone maturation IMP
 biological_processGO:0048741 skeletal muscle fiber development IMP
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051289 protein homotetramerization ISS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0071277 cellular response to calcium ion ISS
 biological_processGO:0071313 cellular response to caffeine IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005790 smooth endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0014802 terminal cisterna ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IDA
 cellular_componentGO:0030314 junctional membrane complex IDA
 cellular_componentGO:0030315 T-tubule IDA
 cellular_componentGO:0031301 integral component of organelle membrane ISS
 cellular_componentGO:0031674 I band IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:1990425 ryanodine receptor complex ISS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005219 ryanodine-sensitive calcium-release channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IDA
 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 IEA
 molecular_functionGO:0005524 ATP binding ISS
 molecular_functionGO:0015278 calcium-release channel activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048763 calcium-induced calcium release activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
Ion homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000005 increased brown fat amount "increased amount of thermogenic tissue in the body that is composed of cells containing multiple small fat droplets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:14208]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Bub1btm1.1Jvd/Bub1b+
Genetic Background: involves: 129S6/SvEvTac

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Bub1btm1.1Jvd/Bub1b+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0000382 underdeveloped hair follicles "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000440 domed skull 
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000738 impaired muscle contractility "inability or reduced ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Atmintm1.1Jhh/Atmintm1.1Jhh,Trp53tm1.1Brn/Trp53tm1.1Brn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1.1Itl/?
Genetic Background: B6.Cg-Ryr1tm1.1Itl

 MP:0001191 abnormal skin condition "anomalous state of the skin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001198 tight skin "skin has a taut, stretched appearance" [J:65038]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001201 translucent skin "skin that is more transparent to light than normal " [J:15108]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Atmintm1.1Jhh/Atmintm1.1Jhh,Trp53tm1.1Brn/Trp53tm1.1Brn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atmintm1.1Jhh/Atmintm1.1Jhh,Trp53tm1.1Brn/Trp53tm1.1Brn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001404 no spontaneous movement "failure to make any change in position or posture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0001491 unresponsive to tactile stimuli "absence of reflex action normally induced by touch or pain" [J:43515, J:47439]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0001777 abnormal body temperature regulation "anomalous control of the body s heat" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * 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: Bub1btm1.1Jvd/Bub1b+
Genetic Background: involves: 129S6/SvEvTac

 MP:0001786 skin edema "accumulation of an excessive amount of fluid in the skin" [J:65039]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bub1btm1.1Jvd/Bub1b+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ryr1tm1Slh/Ryr1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

Allelic Composition: Ryr1tm1.1Itl/?
Genetic Background: B6.Cg-Ryr1tm1.1Itl

Allelic Composition: Ryr1tm1.1Inp/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm2.1Itl/?
Genetic Background: B6.Cg-Ryr1tm2.1Itl

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0002318 hypercapnia "elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0003030 acidemia "increased concentration of H-ion in the blood or a fall below normal in pH" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003081 abnormal soleus morphology "anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

Allelic Composition: Ryr1tm2.1Itl/?
Genetic Background: B6.Cg-Ryr1tm2.1Itl

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
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Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004032 abnormal interventricular groove "malformation of the intendation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 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: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0004091 abnormal Z lines "any structural abnormality in 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: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0004111 abnormal coronary artery morphology "anomaly of any of the arteries that branch from the aorta to supply blood to the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1.1Msnr/Ryr1tm1.1Msnr
Genetic Background: 129S.129P2-Ryr1tm1.1Msnr

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0004231 abnormal calcium ion homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

Allelic Composition: Ryr1tm2.1Alle/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004674 thin ribs "a more slender appearance of the bones forming the bony wall of the chest" [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: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rock1tm1b(NCOM)Mfgc/Rock1tm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Rock1tm1b(NCOM)Mfgc/Tcp

 MP:0005573 increased breathing frequency "greater than the normal number of breaths in a given period of time" [RGD:Rat Genome Database submission]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ryr1tm1Slh/Ryr1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1.1Itl/?
Genetic Background: B6.Cg-Ryr1tm1.1Itl

Allelic Composition: Ryr1tm1.1Msnr/Ryr1tm1.1Msnr
Genetic Background: 129S.129P2-Ryr1tm1.1Msnr

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

 MP:0005627 increased circulating potassium level "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
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Allelic Composition: Ryr1tm1Slh/Ryr1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0008872 abnormal response to xenobiotics "any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Inp/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009045 muscle tetany "a condition of mineral imbalance in the body that results in severe muscle spasms occuring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Msnr/Ryr1tm1.1Msnr
Genetic Background: 129S.129P2-Ryr1tm1.1Msnr

 MP:0009046 muscle twitch "minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Msnr/Ryr1tm1.1Msnr
Genetic Background: 129S.129P2-Ryr1tm1.1Msnr

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0009746 enhanced behavioral response to xenobiotic "increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Slh/Ryr1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm2.1Alle/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1+
Genetic Background: involves: 129S2/SvPasCrl * 129S6/SvEvTac

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Ryr1tm2.1Itl/?
Genetic Background: B6.Cg-Ryr1tm2.1Itl

Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0010404 ostium primum atrial septal defect "interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0010405 ostium secundum atrial septal defect "large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0011016 increased core body temperature "increased degree of heat natural to the internal center of a living being" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ryr1tm1.1Inp/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Ryr1tm1Tno/Ryr1tm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Cited2tm1Ycy/Cited2tm1Ycy
Genetic Background: B6.Cg-Cited2tm1Ycy

 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: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0011978 abnormal potassium ion homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment" [MPD:Molly]
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Allelic Composition: Ryr1m1Nisw/Ryr1+
Genetic Background: 129S1.B6-Ryr1m1Nisw

 MP:0012082 delayed heart development "late onset of the induction and/or differentiation of the heart" [MGI:anna]
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Allelic Composition: Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0012514 pectus excavatum "a caved-in or sunken appearance of the anterior chest wall; the congenital deformity can either be present at birth or may not be visible until puberty" [MGI:anna]
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Allelic Composition: Ryr1tm1Slh/Ryr1tm1Slh
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0020214 susceptible to malignant hyperthermia "increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine" [GOC:NV, http://en.wikipedia.org/wiki/Malignant_hyperthermia]
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Allelic Composition: Ryr1tm2.1Alle/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm1.1Inp/Ryr1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ryr1tm1.1Inp/Ryr1tm1.1Inp
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000030592 Ryr1 / E9PZQ0 / Ryanodine receptor 1 / P21817*  / complex






 

1 s.

 
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