ENSMUSG00000026407


Mus musculus

Features
Gene ID: ENSMUSG00000026407
  
Biological name :Cacna1s
  
Synonyms : Cacna1s / calcium voltage-gated channel subunit alpha1 S
  
Possible biological names infered from orthology : Q13698
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: E4
Gene start: 136052750
Gene end: 136119822
  
Corresponding Affymetrix probe sets: 10350199 (MoGene1.0st)   1420442_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125278
Ensembl peptide - ENSMUSP00000107695
Ensembl peptide - ENSMUSP00000107699
Ensembl peptide - ENSMUSP00000125262
NCBI entrez gene - 12292     See in Manteia.
MGI - MGI:88294
RefSeq - XM_006529107
RefSeq - NM_001081023
RefSeq - NM_014193
RefSeq - XM_006529106
RefSeq Peptide - NP_055008
RefSeq Peptide - NP_001074492
swissprot - E9Q7B5
swissprot - F7CNJ1
swissprot - F8VQE0
swissprot - E9QPX8
Ensembl - ENSMUSG00000026407
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacna1saENSDARG00000029457Danio rerio
 cacna1sbENSDARG00000042552Danio rerio
 CACNA1SENSGALG00000037744Gallus gallus
 Q13698ENSG00000081248Homo 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*ENSMUSG0000005133166
Q99246 / Cacna1d / Voltage-dependent L-type calcium channel subunit alpha-1D / Q01668* / calcium voltage-gated channel subunit alpha1 D*ENSMUSG0000001596865
Cacna1f / calcium voltage-gated channel subunit alpha1 F / O60840*ENSMUSG0000003114258
P97445 / Cacna1a / Voltage-dependent P/Q-type calcium channel subunit alpha-1A / O00555* / calcium voltage-gated channel subunit alpha1 A*ENSMUSG0000003465641
O55017 / Cacna1b / Voltage-dependent N-type calcium channel subunit alpha-1B / Q00975* / calcium voltage-gated channel subunit alpha1 B*ENSMUSG0000000411341
Cacna1e / calcium voltage-gated channel subunit alpha1 E / Q15878*ENSMUSG0000000411040
Nalcn / sodium leak channel, non-selective / Q8IZF0*ENSMUSG0000000019719
Q91ZR5 / Catsper1 / Cation channel sperm-associated protein 1 / Q8NEC5* / cation channel sperm associated 1*ENSMUSG000000384987


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
 IPR005450  Voltage-dependent calcium channel, L-type, alpha-1S 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 IEA
 biological_processGO:0006936 muscle contraction IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0031674 I band IEA
 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 IEA
 molecular_functionGO:0008331 high voltage-gated calcium channel activity IEA


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000005 increased brown fat amount "increased amount of thermogenic tissue in the body that is composed of cells containing multiple small fat droplets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:14208]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000157 abnormal sternum morphology "malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000163 abnormal cartilage morphology "anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000458 abnormal mandible morphology "malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129 * STOCK T/t4

 MP:0000738 impaired muscle contractility "inability or reduced ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129 * STOCK T/t4

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0000761 thin diaphragm muscle "reduced thickness of the diaphragm muscle" [MGI:CLS, J:60159]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000762 abnormal tongue morphology "anomalous structure or development of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0001052 abnormal muscle innervation "malfomation or misprojection of sensory or motor nerves to targets in muscle" [J:75958]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129P1/ReJ * STOCK T/t4

 MP:0001078 abnormal phrenic nerve "malformed or misprojection of motor and sensory neuron axons to the diaphragm and other tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0001404 no spontaneous movement "failure to make any change in position or posture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 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]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1stm1.1Cann/Cacna1s+
Genetic Background: involves: 129

Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Krt10tm1Tmm/Krt10+
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6)

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129P1/ReJ * STOCK T/t4

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129P1/ReJ * STOCK T/t4

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0002932 abnormal joint "defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0003061 decreased aerobic running capacity "reduced ability to run at defined speeds and/or distances compared to controls" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0003201 extremity edema "an accumulation of serous fluid in the limbs, paws and tail" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0003231 abnormal placental vasculature "malformation in the vessels of the placenta" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004089 dilated sarcoplasmic reticulum "an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Cacna1stm1.1Cann/Cacna1s+
Genetic Background: involves: 129

Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004136 abnormal tongue muscle morphology "anomalous structure or development of the muscular portion of the tongue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004198 abnormal fetal size "anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 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"]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0004321 short sternum "reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004322 abnormal sternebra morphology "any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004338 small clavicle "reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004343 small scapula "reduced size of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004354 absent deltoid tuberosity "missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004386 enlarged interparietal bone "increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004620 cervical vertebral fusion "the union of one or more cervical vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004623 thoracic vertebral fusion "the union of one or more thoracic vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004671 long ribs "increased length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004674 thin ribs "a more slender appearance of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 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"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004733 abnormal thoracic cavity "any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004846 absent skeletal muscle "absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0005112 abnormal anterior horn morphology "anomalous structure of the ventral gray column of the spinal cord" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0005388 respiratory system phenotype 
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 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]
Show

Allelic Composition: Cacna1smdg/Cacna1smdg
Genetic Background: involves: 129P1/ReJ * STOCK T/t4

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cacna1stm1.1Cann/Cacna1s+
Genetic Background: involves: 129

Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0006036 abnormal mitochondrial physiology 
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0008150 decreased diameter of long bones "reduced width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0009907 decreased tongue size "reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Cacna1stm1.1Cann/Cacna1s+
Genetic Background: involves: 129

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0010082 sternebra fusion "appearance of one or more sternebrae as a single structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0011629 decreased mitochondria number "fewer than normal number of the cellular organelles responsible for energy production" [MGI:csmith]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0011631 decreased mitochondria size "reduced size of the cellular organelles responsible for energy production" [MGI:csmith]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0011632 dilated mitochondria "the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]
Show

Allelic Composition: Cacna1stm1.1Arte/Cacna1stm1.1Arte
Genetic Background: involves: C57BL/6N

 MP:0030258 small mandibular condyloid process "reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:anna]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0030283 small mandibular coronoid process "reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)" [MGI:anna]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0030287 enlarged occipital bone "increased size of the bone at the lower, posterior part of the skull" [MGI:anna]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020882 Cacnb1 / Q8R3Z5 / Voltage-dependent L-type calcium channel subunit beta-1 / Q02641* / calcium voltage-gated channel auxiliary subunit beta 1*  / complex
 ENSMUSG00000057914 Cacnb2 / Q8CC27 / Voltage-dependent L-type calcium channel subunit beta-2 / Q08289* / calcium voltage-gated channel auxiliary subunit beta 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
 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
 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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr