ENSMUSG00000096014


Mus musculus

Features
Gene ID: ENSMUSG00000096014
  
Biological name :Sox1
  
Synonyms : P53783 / Sox1 / Transcription factor SOX-1
  
Possible biological names infered from orthology : O00570 / SRY-box 1
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: A1.1
Gene start: 12395295
Gene end: 12400126
  
Corresponding Affymetrix probe sets: 10570189 (MoGene1.0st)   1422205_at (Mouse Genome 430 2.0 Array)   1438729_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000137203
NCBI entrez gene - 20664     See in Manteia.
MGI - MGI:98357
RefSeq - NM_009233
RefSeq Peptide - NP_033259
swissprot - P53783
Ensembl - ENSMUSG00000096014
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sox1aENSDARG00000069866Danio rerio
 sox1bENSDARG00000008131Danio rerio
 SOX1ENSGALG00000030353Gallus gallus
 SOX1ENSG00000182968Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sox3 / SRY-box 3 / P41225*ENSMUSG0000004517956
Sox2 / SRY-box 2 / P48431*ENSMUSG0000007463750
Sox21 / Q811W0 / Transcription factor SOX-21 / Q9Y651* / SRY-box 21*ENSMUSG0000006151729
Sox14 / Q04892 / Transcription factor SOX-14 / O95416* / SRY-box 14*ENSMUSG0000005374727
Sox15 / P43267 / SRY (sex determining region Y)-box 15 / O60248* / SRY-box 15*ENSMUSG0000004128724
Sox18 / P43680 / Transcription factor SOX-18 / P35713* / SRY-box 18*ENSMUSG0000004647021
Sox10 / Q04888 / Transcription factor SOX-10 / P56693* / SRY-box 10*ENSMUSG0000003300621
Sox17 / Q61473 / Transcription factor SOX-17 / Q9H6I2* / SRY-box 17*ENSMUSG0000002590221
Sox7 / P40646 / SRY (sex determining region Y)-box 7 / Q9BT81* / SRY-box 7*ENSMUSG0000006306021
Sox9 / Q04887 / Transcription factor SOX-9 / P48436* / SRY-box 9*ENSMUSG0000000056720
Sox4 / Q06831 / Transcription factor SOX-4 / Q06945* / SRY-box 4*ENSMUSG0000007643119
Sox11 / Q7M6Y2 / Transcription factor SOX-11 / P35716* / SRY-box 11*ENSMUSG0000006363219
Sox8 / Q04886 / SRY (sex determining region Y)-box 8 / P57073* / SRY-box 8*ENSMUSG0000002417619
Sry / Q05738 / sex determining region of Chr Y / Q05066* / sex determining region Y*ENSMUSG0000006903617
Sox12 / Q04890 / Transcription factor SOX-12 / O15370* / SRY-box 12*ENSMUSG0000005181715


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR022097  Transcription factor SOX
 IPR031268  Transcription factor SOX-1
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0002089 lens morphogenesis in camera-type eye IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0021521 ventral spinal cord interneuron specification IMP
 biological_processGO:0021879 forebrain neuron differentiation IMP
 biological_processGO:0021884 forebrain neuron development IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IDA
 cellular_componentGO:0005634 nucleus IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Enpp2tm1.1Vart/Enpp2tm1.1Vart,Sox1tm2Vep/Sox1+
Genetic Background: involves: C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Plp1tm1Kan/Y
Genetic Background: B6.129-Plp1tm1Kan

 MP:0001292 abnormal lens vesicle development "malformation or abnormal patterning of the lens vesicle of the eye" [J:49424]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

Allelic Composition: Sox1tm1Vep/Sox1tm2Vep,Sox2tm1Vep/Sox2+
Genetic Background: involves: 129S/SvEv

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0001353 increased aggression to other mice "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Webster s II New College Dictionary:ISBN 0-395-70869-9]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0001357 increased aggression to humans "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Webster s II New College Dictionary:ISBN 0-395-70869-9]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

Allelic Composition: Sox1tm1Vep/Sox1tm2Vep,Sox2tm1Vep/Sox2+
Genetic Background: involves: 129S/SvEv

 MP:0002068 abnormal parental behavior "altered behavior of animals towards offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

Allelic Composition: Sox1tm1Vep/Sox1tm2Vep,Sox2tm1Vep/Sox2+
Genetic Background: involves: 129S/SvEv

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 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: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 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: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Enpp2tm1.1Vart/Enpp2tm1.1Vart,Sox1tm2Vep/Sox1+
Genetic Background: involves: C57BL/6

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0002741 small olfactory bulb "reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0003199 muscle calcification "pathologic deposition of calcium salts in muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0003202 abnormal neuron apoptosis "change in the timing or the number of neurons undergoing programmed cell death" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Enpp2tm1.1Vart/Enpp2tm1.1Vart,Sox1tm2Vep/Sox1+
Genetic Background: involves: C57BL/6

 MP:0004077 abnormal striatum morphology "malformation of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0004080 abnormal nucleus accumbens morphology "malformation in the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0004103 abnormal ventral striatum morphology "any structural abnormality of the regions of the nucleus accumbens and some nuclei of the olfactory tubercule that lie ventral to the anterior commissure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0004510 myositis "inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0004948 abnormal neuronal precursor proliferation "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0005267 abnormal olfactory cortex morphology "anomalous structure of piriform cortex, part of the olfactory tract, which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83884]
Show

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

Allelic Composition: Sox1tm1Vep/Sox1tm2Vep,Sox2tm1Vep/Sox2+
Genetic Background: involves: 129S/SvEv

Allelic Composition: Sox1tm1Vep/Sox1tm1Vep,Sox2tm1Vep/Sox2+
Genetic Background: involves: 129S/SvEv

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxn1nu/Foxn1nu,Tg(Foxn1)G2Hon/0
Genetic Background: involves: CD-1

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox1tm2Vep/Sox1tm2Vep
Genetic Background: Not Specified

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 MP:0008227 absent anterior commissure "absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 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: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0009419 skeletal muscle fibrosis "formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0009461 skeletal muscle hypertrophy "increase in the bulk size of the skeletal muscle due to cell enlargement" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 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: Tbx4tm1.1Kng/Tbx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2

 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]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 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: Dicer1tm1Bdh/Dicer1tm1Bdh,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: 129 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0012173 short rostral-caudal axis "length reduction or truncation of the axis that runs from the head to the tail of the body" [MGI:anna]
Show

Allelic Composition: Dicer1tm1Bdh/Dicer1tm1Bdh,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: 129 * C57BL/6NCrlj * CBA/JNCrlj

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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