ENSMUSG00000010066


Mus musculus

Features
Gene ID: ENSMUSG00000010066
  
Biological name :Cacna2d2
  
Synonyms : Cacna2d2 / Q6PHS9 / Voltage-dependent calcium channel subunit alpha-2/delta-2 Voltage-dependent calcium channel subunit alpha-2-2 Voltage-dependent calcium channel subunit delta-2
  
Possible biological names infered from orthology : calcium voltage-gated channel auxiliary subunit alpha2delta 2 / Q9NY47
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: F1
Gene start: 107399612
Gene end: 107529343
  
Corresponding Affymetrix probe sets: 10588592 (MoGene1.0st)   1426185_at (Mouse Genome 430 2.0 Array)   1450754_at (Mouse Genome 430 2.0 Array)   1451955_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000132512
Ensembl peptide - ENSMUSP00000126029
Ensembl peptide - ENSMUSP00000130451
Ensembl peptide - ENSMUSP00000010210
Ensembl peptide - ENSMUSP00000082173
Ensembl peptide - ENSMUSP00000125943
NCBI entrez gene - 56808     See in Manteia.
MGI - MGI:1929813
RefSeq - XM_017313497
RefSeq - NM_001174047
RefSeq - NM_001174048
RefSeq - NM_001174049
RefSeq - NM_001174050
RefSeq - NM_020263
RefSeq - XM_011242899
RefSeq - XM_017313496
RefSeq Peptide - NP_001167518
RefSeq Peptide - NP_001167519
RefSeq Peptide - NP_064659
RefSeq Peptide - NP_001167520
RefSeq Peptide - NP_001167521
swissprot - Q6PHS9
swissprot - E9Q683
Ensembl - ENSMUSG00000010066
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacna2d2aENSDARG00000103390Danio rerio
 cacna2d2bENSDARG00000078169Danio rerio
 CACNA2D2ENSGALG00000038242Gallus gallus
 Q9NY47ENSG00000007402Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O08532 / Cacna2d1 / Voltage-dependent calcium channel subunit alpha-2/delta-1 Voltage-dependent calcium channel subunit alpha-2-1 Voltage-dependent calcium channel subunit delta-1 / P54289*...ENSMUSG0000004011851
Cacna2d4 / voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 2 / Q7Z3S7* / calcium voltage-gated channel auxiliary subunit alpha2delta 4*ENSMUSG0000004146028
Q9Z1L5 / Cacna2d3 / Voltage-dependent calcium channel subunit alpha-2/delta-3 Voltage-dependent calcium channel subunit alpha-2-3 Voltage-dependent calcium channel subunit delta-3ENSMUSG0000002199127
Cachd1 / Q6PDJ1 / VWFA and cache domain-containing protein 1 / cache domain containing 1*ENSMUSG0000002853218


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR013608  VWA N-terminal
 IPR013680  Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IC
 biological_processGO:0007528 neuromuscular junction development IMP
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0040014 regulation of multicellular organism growth IMP
 biological_processGO:0046622 positive regulation of organ growth IMP
 biological_processGO:0048747 muscle fiber development IMP
 biological_processGO:0060024 rhythmic synaptic transmission IMP
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0005891 voltage-gated calcium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IDA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000243 myoclonus "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna2d2du-3J/Cacna2d2du-3J
Genetic Background: involves: BALB/cByJ * C57BL/6J

Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000633 abnormal pituitary gland morphology "anomalous structure of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [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: Cacna2d2du-3J/Cacna2d2du-3J
Genetic Background: involves: BALB/cByJ * C57BL/6J

Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: DBA/2J-Cacna2d2du-td

 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: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000841 abnormal hindbrain morphology "malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000846 abnormal medulla oblongata "anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000866 vermis hypoplasia "reduced cell number in the vermis" [J:61509]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 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: Cacna2d2du/Cacna2d2du
Genetic Background: involves: C3H * DBA/2J

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0000956 reduced spinal cord size "smaller appearance of the spinal cord" [J:35802]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 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: Cacna2d2du/Cacna2d2du
Genetic Background: involves: C3H * DBA/2J

 MP:0001077 abnormal spinal nerve morphology "any anomaly, deformity, or malformation of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0001120 abnormal uterus morphology "malformation or absence of the female muscular organ of gestation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 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: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: C3H * DBA/2J

Allelic Composition: Cacna2d2m1Btlr/Cacna2d2m1Btlr
Genetic Background: C57BL/6J-Cacna2d2m1Btlr

 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: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2du-3J/Cacna2d2du-3J
Genetic Background: involves: BALB/cByJ * C57BL/6J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: DBA/2J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0001388 abnormal stationary movement "altered ability or inability to change body posture or shift a body part" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 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: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 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: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BL/6 * C57BLKS/J

 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: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: DBA/2J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du-3J/Cacna2d2du-3J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0001629 abnormal heart rate "greater than or fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

 MP:0001867 rhinitis "inflammation of the mucous membrane of the nose" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: DBA/2J

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: DBA/2J

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 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: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 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: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: 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: Cacna2d2du-3J/Cacna2d2du-3J
Genetic Background: involves: BALB/cByJ * C57BL/6J

Allelic Composition: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 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: Dicer1tm1.1Doca/Dicer1tm1.1Doca
Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 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: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BL/6 * C57BLKS/J

Allelic Composition: Cacna2d2du-2J/Cacna2d2+
Genetic Background: involves: C57BL/6 * C57BLKS/J

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 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: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 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: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0003216 absence seizures "impairment of consciousness without convulsions associated with widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG)" [RGD:Rat Genome Database submission]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BL/6 * C57BLKS/J

 MP:0003225 axonal dystrophy "axon degeneration resulting from inadequate or faulty metabolism" [RGD:Rat Genome Database submission]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0003492 abnormal involuntary movement "anomalies in movements that occur independent of planning (eg. reflexive behavior)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 MP:0003690 abnormal glial cell physiology "anomalous function of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0003990 decreased neurotransmitter release "reduced secretion of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: C3H * DBA/2J

 MP:0003993 abnormal ventral spinal root morphology "any anomaly, deformity, or malformation of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0003994 abnormal dorsal spinal root morphology "any anomaly, deformity, or malformation of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0004706 short vertebral body "reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: involves: C3H * DBA/2J

 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: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 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: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: DBA/2J-Cacna2d2du-td

 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: Cacna2d2tm1Svi/Cacna2d2tm1Svi
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0008027 abnormal spinal cord white matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 MP:0008035 behavioral arrest "locomotor activity is interrupted by sudden periods of no movement" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 MP:0008333 absent lactotrophs "absence of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812]
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Allelic Composition: Cacna2d2du-td/Cacna2d2du-td
Genetic Background: involves: DBA/2J

 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: Cacna2d2du/Cacna2d2du
Genetic Background: involves: DBA/2J

 MP:0008840 abnormal spike wave discharge "anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy" [PMID:16725200]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BLKS/J-Cacna2d2du-2J/LetJ

 MP:0008911 induced hyperactivity "increased physical activity following stimulation such as handling, touching or noise" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU/DnJ

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du-2J/Cacna2d2du-2J
Genetic Background: involves: C57BL/6 * C57BLKS/J

 MP:0009460 skeletal muscle hypoplasia "underdevelopment or decreased size of the skeletal muscle, usually due an increased number of cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Eif2ak2tm1Cwe/Eif2ak2tm1Cwe,Rnaseltm1Slvm/Rnaseltm1Slvm
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 MP:0020533 decreased pons size "decreased size of or number of the nerve fibers in the pons" [MGI:smb]
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Allelic Composition: Cacna2d2du/Cacna2d2du
Genetic Background: TKDU

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000003352 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*  / complex
 ENSMUSG00000051331 Q01815 / Cacna1c / Voltage-dependent L-type calcium channel subunit alpha-1C / Q13936* / calcium voltage-gated channel subunit alpha1 C*  / 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
 ENSMUSG00000004110 Cacna1e / calcium voltage-gated channel subunit alpha1 E / Q15878*  / complex
 ENSMUSG00000020882 Cacnb1 / Q8R3Z5 / Voltage-dependent L-type calcium channel subunit beta-1 / Q02641* / calcium voltage-gated channel auxiliary subunit beta 1*  / complex
 ENSMUSG00000017412 Cacnb4 / Q8R0S4 / Mus musculus calcium channel, voltage-dependent, beta 4 subunit (Cacnb4), transcript variant 6, mRNA. / O00305* / AC068547.1* / calcium voltage-gated channel auxiliary sub...  / complex
 ENSMUSG00000057914 Cacnb2 / Q8CC27 / Voltage-dependent L-type calcium channel subunit beta-2 / Q08289* / calcium voltage-gated channel auxiliary subunit beta 2*  / 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
 ENSMUSG00000034656 P97445 / Cacna1a / Voltage-dependent P/Q-type calcium channel subunit alpha-1A / O00555* / calcium voltage-gated channel subunit alpha1 A*  / complex






 

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