ENSMUSG00000017412


Mus musculus

Features
Gene ID: ENSMUSG00000017412
  
Biological name :Cacnb4
  
Synonyms : Cacnb4 / Mus musculus calcium channel, voltage-dependent, beta 4 subunit (Cacnb4), transcript variant 6, mRNA. / Q8R0S4
  
Possible biological names infered from orthology : AC068547.1 / calcium voltage-gated channel auxiliary subunit beta 4 / O00305
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C1.1
Gene start: 52428320
Gene end: 52676831
  
Corresponding Affymetrix probe sets: 10482695 (MoGene1.0st)   1428928_at (Mouse Genome 430 2.0 Array)   1436912_at (Mouse Genome 430 2.0 Array)   1452089_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000077438
Ensembl peptide - ENSMUSP00000099821
Ensembl peptide - ENSMUSP00000099822
Ensembl peptide - ENSMUSP00000136811
NCBI entrez gene - 12298     See in Manteia.
MGI - MGI:103301
RefSeq - XM_017315165
RefSeq - NM_001285426
RefSeq - NM_001285427
RefSeq - NM_001285428
RefSeq - NM_001355059
RefSeq - NM_146123
RefSeq - XM_006497641
RefSeq - XM_006497642
RefSeq - XM_011239015
RefSeq - XM_017315163
RefSeq - NM_001037099
RefSeq Peptide - NP_001272355
RefSeq Peptide - NP_001272356
RefSeq Peptide - NP_001272357
RefSeq Peptide - NP_001341988
RefSeq Peptide - NP_666235
RefSeq Peptide - NP_001032176
swissprot - A2ATZ8
swissprot - J3QK20
swissprot - Q8R0S4
Ensembl - ENSMUSG00000017412
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacnb4aENSDARG00000009738Danio rerio
 cacnb4bENSDARG00000062174Danio rerio
 AC068547.1ENSG00000283228Homo sapiens
 CACNB4ENSG00000182389Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cacnb2 / Q8CC27 / Voltage-dependent L-type calcium channel subunit beta-2 / Q08289* / calcium voltage-gated channel auxiliary subunit beta 2*ENSMUSG0000005791466
Cacnb3 / P54285 / Mus musculus calcium channel, voltage-dependent, beta 3 subunit (Cacnb3), transcript variant 4, mRNA. / P54284* / calcium voltage-gated channel auxiliary subunit beta 3*ENSMUSG0000000335261
Cacnb1 / Q8R3Z5 / Voltage-dependent L-type calcium channel subunit beta-1 / Q02641* / calcium voltage-gated channel auxiliary subunit beta 1*ENSMUSG0000002088261


Protein motifs (from Interpro)
Interpro ID Name
 IPR000584  Voltage-dependent calcium channel, L-type, beta subunit
 IPR001452  SH3 domain
 IPR008079  Voltage-dependent calcium channel, L-type, beta-3 subunit
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IMP
 biological_processGO:0007214 gamma-aminobutyric acid signaling pathway IMP
 biological_processGO:0007528 neuromuscular junction development IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0014051 gamma-aminobutyric acid secretion IMP
 biological_processGO:0019227 neuronal action potential propagation IMP
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035249 synaptic transmission, glutamatergic IMP
 biological_processGO:0042391 regulation of membrane potential IMP
 biological_processGO:0046058 cAMP metabolic process IMP
 biological_processGO:0048536 spleen development IMP
 biological_processGO:0048538 thymus development IMP
 biological_processGO:0048541 Peyer"s patch development IMP
 biological_processGO:0048747 muscle fiber development IMP
 biological_processGO:0050852 T cell receptor signaling pathway IMP
 biological_processGO:0050877 nervous system process IMP
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:1901385 regulation of voltage-gated calcium channel activity IBA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0045202 synapse ISO
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008331 high voltage-gated calcium channel activity TAS
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
Presynaptic depolarization and calcium channel opening
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000436 abnormal head movements "anomalous motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Thbs2tm1Bst/Thbs2tm1Bst
Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129X1/SvJ)

 MP:0000635 pituitary gland hyperplasia "increased size of pituitary gland due to increased cell number" [J:63229, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0000692 small spleen "decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [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: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Thbs2tm1Bst/Thbs2tm1Bst
Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129X1/SvJ)

Allelic Composition: Cacnb4lh-4J/Cacnb4lh-4J
Genetic Background: C3Fe(SWV)-Cacnb4lh-4J/GrsrJ

 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: Thbs2tm1Bst/Thbs2tm1Bst
Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129X1/SvJ)

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Thbs2tm1Bst/Thbs2tm1Bst
Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129X1/SvJ)

Allelic Composition: Cacnb4lh-4J/Cacnb4lh-4J
Genetic Background: C3Fe(SWV)-Cacnb4lh-4J/GrsrJ

Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: involves: BALB/cGn

 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: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Cacnb4lh-2J/Cacnb4lh-2J
Genetic Background: involves: C3H * C57BL/6 * DBA/2J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0001824 abnormal thymic involution "premature or late decline in thymic function normally associated with advancing age" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Cacnb4lh-4J/Cacnb4lh-4J
Genetic Background: C3Fe(SWV)-Cacnb4lh-4J/GrsrJ

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Cacnb4lh-2J/Cacnb4lh-2J
Genetic Background: involves: C3H * C57BL/6 * DBA/2J

 MP:0002065 abnormal fear/anxiety-related behavior "altered response in tests for fear or anxiety related behaviors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0002339 abnormal lymph node morphology "anomalous structure, size, or celluarity of the oval or bean shaped bodies located along the lymphatic system" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0002391 abnormal Peyer s patch germinal center morphology "anomalous structure or differentiation of the area of the Peyer s patch where B cells proliferate and differentiate into plasma cells" [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: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 MP:0003996 clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0004751 increased length of allograft survival "compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 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: Cacnb4lh/Cacnb4lh
Genetic Background: BALB/cGn-Cacnb4lh

 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: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0005016 decreased lymphocyte number "fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0005036 diarrhea "abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0005092 decreased double-positive T cell count "less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 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: Thbs2tm1Bst/Thbs2tm1Bst
Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129X1/SvJ)

Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: involves: BALB/cGn

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: involves: BALB/cGn

 MP:0005463 abnormal CD4+ T cell physiology "anomalous response of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008133 decreased Peyer s patch number "reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densly packed B cell follicles" [PMID:15841100]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008135 small Peyer s patches "reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densly packed B cell follicles" [PMID:15841100]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008499 increased IgG1 level "greater than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: involves: BALB/cGn

 MP:0008567 decreased interferon-gamma secretion "reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008568 abnormal interleukin secretion "anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008688 decreased interleukin-2 secretion "reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacnb4lh/Cacnb4lh
Genetic Background: involves: BALB/cGn

 MP:0009747 impaired behavioral response to xenobiotic "decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0013741 absent thymus corticomedullary boundary " complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; normally, this is the site of entry of bone marrow stem cells and exit of mature, functional T cells" [MGI:Anna, PMID:17067941]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

 MP:0030143 facial muscle spasm "sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching" [HP:0011468, https://www.healthgrades.com/symptoms/facial-spasms]
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Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: C57BL/6J * DBA/2J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034656 P97445 / Cacna1a / Voltage-dependent P/Q-type calcium channel subunit alpha-1A / O00555* / calcium voltage-gated channel subunit alpha1 A*  / complex
 ENSMUSG00000010066 Q6PHS9 / Cacna2d2 / Voltage-dependent calcium channel subunit alpha-2/delta-2 Voltage-dependent calcium channel subunit alpha-2-2 Voltage-dependent calcium channel subunit delta-2 / Q9NY47*...  / complex
 ENSMUSG00000019146 Cacng2 / O88602 / Voltage-dependent calcium channel gamma-2 subunit / Q9Y698* / calcium voltage-gated channel auxiliary subunit gamma 2*  / complex
 ENSMUSG00000041460 Cacna2d4 / voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 2 / Q7Z3S7* / calcium voltage-gated channel auxiliary subunit alpha2delta 4*  / complex
 ENSMUSG00000051331 Q01815 / Cacna1c / Voltage-dependent L-type calcium channel subunit alpha-1C / Q13936* / calcium voltage-gated channel subunit alpha1 C*  / complex
 ENSMUSG00000015968 Q99246 / Cacna1d / Voltage-dependent L-type calcium channel subunit alpha-1D / Q01668* / calcium voltage-gated channel subunit alpha1 D*  / complex
 ENSMUSG00000026407 Cacna1s / calcium voltage-gated channel subunit alpha1 S / Q13698*  / complex






 

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