ENSMUSG00000015968


Mus musculus

Features
Gene ID: ENSMUSG00000015968
  
Biological name :Cacna1d
  
Synonyms : Cacna1d / Q99246 / Voltage-dependent L-type calcium channel subunit alpha-1D
  
Possible biological names infered from orthology : calcium voltage-gated channel subunit alpha1 D / Q01668
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: B
Gene start: 30039939
Gene end: 30491455
  
Corresponding Affymetrix probe sets: 10418355 (MoGene1.0st)   1427974_s_at (Mouse Genome 430 2.0 Array)   1428051_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000153250
Ensembl peptide - ENSMUSP00000152953
Ensembl peptide - ENSMUSP00000153293
Ensembl peptide - ENSMUSP00000153689
Ensembl peptide - ENSMUSP00000153586
Ensembl peptide - ENSMUSP00000107868
Ensembl peptide - ENSMUSP00000107869
NCBI entrez gene - 12289     See in Manteia.
MGI - MGI:88293
RefSeq - XM_017315825
RefSeq - XM_017315817
RefSeq - XM_017315818
RefSeq - XM_017315819
RefSeq - XM_017315820
RefSeq - XM_017315821
RefSeq - XM_017315822
RefSeq - XM_017315823
RefSeq - XM_017315824
RefSeq - NM_001083616
RefSeq - NM_001302637
RefSeq - NM_028981
RefSeq - XM_006518475
RefSeq - XM_006518479
RefSeq - XM_006518480
RefSeq - XM_017315808
RefSeq - XM_017315809
RefSeq - XM_017315810
RefSeq - XM_017315811
RefSeq - XM_017315812
RefSeq - XM_017315813
RefSeq - XM_017315814
RefSeq - XM_017315815
RefSeq - XM_017315816
RefSeq Peptide - NP_083257
RefSeq Peptide - NP_001077085
RefSeq Peptide - NP_001289566
swissprot - A0A2C9F2E5
swissprot - A0A286YCE7
swissprot - Q99246
swissprot - A0A286YE45
swissprot - A0A286YD72
Ensembl - ENSMUSG00000015968
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacna1daENSDARG00000102773Danio rerio
 cacna1dbENSDARG00000110642Danio rerio
 cacna1dbENSDARG00000115603Danio rerio
 O73700ENSGALG00000005332Gallus gallus
 Q01668ENSG00000157388Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q01815 / Cacna1c / Voltage-dependent L-type calcium channel subunit alpha-1C / Q13936* / calcium voltage-gated channel subunit alpha1 C*ENSMUSG0000005133167
Cacna1f / calcium voltage-gated channel subunit alpha1 F / O60840*ENSMUSG0000003114260
Cacna1s / calcium voltage-gated channel subunit alpha1 S / Q13698*ENSMUSG0000002640756
O55017 / Cacna1b / Voltage-dependent N-type calcium channel subunit alpha-1B / Q00975* / calcium voltage-gated channel subunit alpha1 B*ENSMUSG0000000411338
P97445 / Cacna1a / Voltage-dependent P/Q-type calcium channel subunit alpha-1A / O00555* / calcium voltage-gated channel subunit alpha1 A*ENSMUSG0000003465638
Cacna1e / calcium voltage-gated channel subunit alpha1 E / Q15878*ENSMUSG0000000411036
Nalcn / sodium leak channel, non-selective / Q8IZF0*ENSMUSG0000000019717
Q91ZR5 / Catsper1 / Cation channel sperm-associated protein 1 / Q8NEC5* / cation channel sperm associated 1*ENSMUSG000000384986


Protein motifs (from Interpro)
Interpro ID Name
 IPR002077  Voltage-dependent calcium channel, alpha-1 subunit
 IPR005446  Voltage-dependent calcium channel, L-type, alpha-1 subunit
 IPR005452  Voltage-dependent calcium channel, L-type, alpha-1D subunit
 IPR005821  Ion transport domain
 IPR014873  Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
 IPR031649  Voltage-dependent L-type calcium channel, IQ-associated domain
 IPR031688  Voltage-gated calcium channel subunit alpha, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport ISO
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IMP
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051928 positive regulation of calcium ion transport ISO
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IMP
 biological_processGO:0061337 cardiac conduction ISS
 biological_processGO:0070509 calcium ion import ISO
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction ISO
 biological_processGO:0086046 membrane depolarization during SA node cell action potential ISO
 biological_processGO:0086091 regulation of heart rate by cardiac conduction ISO
 biological_processGO:1901016 regulation of potassium ion transmembrane transporter activity IMP
 biological_processGO:1901379 regulation of potassium ion transmembrane transport IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IC
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:1990454 L-type voltage-gated calcium channel complex ISO
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008331 high voltage-gated calcium channel activity ISO
 molecular_functionGO:0030506 ankyrin binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051393 alpha-actinin binding ISO
 molecular_functionGO:0086059 voltage-gated calcium channel activity involved SA node cell action potential ISO


Pathways (from Reactome)
Pathway description
Regulation of insulin secretion
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000848 abnormal pons "malformed band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:1776, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cacna1dtm1Hgn/Cacna1dtm1Hgn,Egr2tm2(cre)Pch/Egr2+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 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: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0002626 increased heart rate "greater than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0003059 decreased insulin secretion "less than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0003339 decreased number of pancreatic beta cells "fewer than normal number of the cells of the pancreas that secrete insulin" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0003562 abnormal beta cell physiology "anomaly in the function of the insulin-producing cells of the islets of Langerhans in the pancreas" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003928 increased heart rate variability "increased variation of beat-to-beat intervals of the heart, usually indicitive of a healthy heart" [RGD:Rat Genome Database submission]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004122 sinus arrhythmia "irregular heartbeat related to abnormal function of the sinoatrial node" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [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: B6.129S7-Cacna1dtm1Jst

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004433 abnormal cochlear inner hair cell physiology "anomalies in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004434 abnormal cochlear outer hair cell physiology "anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004530 absent outer hair cell stereocilia "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0004562 abnormal inner hair cell synaptic ribbon morphology "any structural abnormality in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004563 absent active-zone-anchored inner hair cell synaptic ribbon "absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004633 abnormal cochlear IHC efferent innervation "any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004716 abnormal cochlear nerve morphology "any structural abnormality in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Hgn/Cacna1dtm1Hgn,Egr2tm2(cre)Pch/Egr2+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0004746 abnormal cochlear IHC afferent innervation "any changes in the morphology or number of afferent terminals and/or their synapses in the cochlear IHC region" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 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: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0006142 abnormal sinoatrial node conduction "anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: B6.129S7-Cacna1dtm1Jst

 MP:0008543 atrial fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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: Cacna1dtm1Hgn/Cacna1dtm1Hgn,Egr2tm2(cre)Pch/Egr2+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0009114 decreased pancreatic beta cell mass "reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0009168 decreased pancreatic islet number "reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0009175 abnormal pancreatic beta cell differentiation "atypical production of or inability to produce the cells of the pancreas that secrete insulin, and/or accumulation of pancreatic beta cell precursors" [MESH:A03.734.414.131]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0009176 increased pancreatic alpha cell number "increase in the number of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0010506 prolonged RR interval "increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [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:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010559 heart block "a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart" [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:0010637 sinus bradycardia "a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011820 decreased pancreatic beta cell proliferation "reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division" [CL:0000169]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0011966 abnormal auditory brainstem response waveform shape "any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts" [MGI:csmith]
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Allelic Composition: Cacna1dtm1Hgn/Cacna1dtm1Hgn,Egr2tm2(cre)Pch/Egr2+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Atmtm1Mfl/Atmtm1Mfl
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Cacna1dtm1Hssh/Cacna1d+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

  


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
 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
 ENSMUSG00000020882 Cacnb1 / Q8R3Z5 / Voltage-dependent L-type calcium channel subunit beta-1 / Q02641* / calcium voltage-gated channel auxiliary subunit beta 1*  / complex
 ENSMUSG00000041460 Cacna2d4 / voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 2 / Q7Z3S7* / calcium voltage-gated channel auxiliary subunit alpha2delta 4*  / 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






 

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