ENSMUSG00000052613


Mus musculus

Features
Gene ID: ENSMUSG00000052613
  
Biological name :Pcdh15
  
Synonyms : Pcdh15 / Protocadherin-15 / Q99PJ1
  
Possible biological names infered from orthology : protocadherin related 15 / Q96QU1
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: B5.3
Gene start: 73099342
Gene end: 74649737
  
Corresponding Affymetrix probe sets: 10363915 (MoGene1.0st)   10363921 (MoGene1.0st)   1421503_at (Mouse Genome 430 2.0 Array)   1442326_at (Mouse Genome 430 2.0 Array)   1444317_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120618
Ensembl peptide - ENSMUSP00000068561
Ensembl peptide - ENSMUSP00000090076
Ensembl peptide - ENSMUSP00000101064
Ensembl peptide - ENSMUSP00000101066
Ensembl peptide - ENSMUSP00000101069
Ensembl peptide - ENSMUSP00000114326
Ensembl peptide - ENSMUSP00000115399
Ensembl peptide - ENSMUSP00000117731
Ensembl peptide - ENSMUSP00000118201
Ensembl peptide - ENSMUSP00000118833
Ensembl peptide - ENSMUSP00000119662
Ensembl peptide - ENSMUSP00000120056
Ensembl peptide - ENSMUSP00000121130
Ensembl peptide - ENSMUSP00000121534
Ensembl peptide - ENSMUSP00000121939
Ensembl peptide - ENSMUSP00000122466
Ensembl peptide - ENSMUSP00000122606
Ensembl peptide - ENSMUSP00000122911
Ensembl peptide - ENSMUSP00000122940
Ensembl peptide - ENSMUSP00000123647
Ensembl peptide - ENSMUSP00000134863
Ensembl peptide - ENSMUSP00000135495
Ensembl peptide - ENSMUSP00000135501
Ensembl peptide - ENSMUSP00000135849
Ensembl peptide - ENSMUSP00000141594
Ensembl peptide - ENSMUSP00000141792
Ensembl peptide - ENSMUSP00000141920
Ensembl peptide - ENSMUSP00000141973
Ensembl peptide - ENSMUSP00000142173
Ensembl peptide - ENSMUSP00000142238
Ensembl peptide - ENSMUSP00000142313
NCBI entrez gene - 11994     See in Manteia.
MGI - MGI:1891428
RefSeq - XM_006513156
RefSeq - XM_017313784
RefSeq - XM_017313785
RefSeq - NM_001142735
RefSeq - NM_001142736
RefSeq - NM_023115
RefSeq - NM_001142760
RefSeq - NM_001142748
RefSeq - NM_001142747
RefSeq - NM_001142746
RefSeq - NM_001142737
RefSeq - NM_001142738
RefSeq - NM_001142739
RefSeq - NM_001142740
RefSeq - NM_001142741
RefSeq - NM_001142743
RefSeq - NM_001142742
RefSeq - XM_006513155
RefSeq Peptide - NP_001136232
RefSeq Peptide - NP_001136214
RefSeq Peptide - NP_001136215
RefSeq Peptide - NP_001136218
RefSeq Peptide - NP_001136219
RefSeq Peptide - NP_001136220
RefSeq Peptide - NP_075604
RefSeq Peptide - NP_001136207
RefSeq Peptide - NP_001136208
RefSeq Peptide - NP_001136209
RefSeq Peptide - NP_001136210
RefSeq Peptide - NP_001136211
RefSeq Peptide - NP_001136212
RefSeq Peptide - NP_001136213
swissprot - E9Q159
swissprot - A0A140T8S2
swissprot - A0A0A6YY17
swissprot - A0A0A6YXB5
swissprot - A0A0A6YWL3
swissprot - Q99PJ1
Ensembl - ENSMUSG00000052613
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pcdh15aENSDARG00000098257Danio rerio
 pcdh15bENSDARG00000008127Danio rerio
 PCDH15ENSGALG00000002744Gallus gallus
 PCDH15ENSG00000150275Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O88689 / Pcdha4 / Protocadherin alpha-4 / Q9UN74*ENSMUSG0000010425213
Pcdha12 / protocadherin alpha 12 / Q9Y5I0* / PCDHA13* / protocadherin alpha 13*ENSMUSG0000010331013
Q91Y20 / Pcdha11 / protocadherin alpha 11ENSMUSG0000000744013
Pcdh7 / protocadherin 7 / O60245*ENSMUSG0000002910813
Pcdha6 / Q9UN73* / Q9Y5H6* / PCDHA8* / protocadherin alpha 6* / protocadherin alpha 8*ENSMUSG0000010370713
Pcdh11x / protocadherin 11 X-linked / Q9BZA7* / Q9BZA8* / PCDH11Y* / protocadherin 11 Y-linked*ENSMUSG0000003475513
Pcdha9 / Q91Y11 / Protocadherin alpha-9 / Q9Y5I2* / PCDHA10* / protocadherin alpha 10*ENSMUSG0000010377013
Pcdha1 / protocadherin alpha 1 / Q9Y5I3*ENSMUSG0000010344213
Pcdha8 / protocadherin alpha 8 / Q9Y5H5* / PCDHA7* / PCDHA9* / Q9UN72* / protocadherin alpha 7* / protocadherin alpha 9*ENSMUSG0000010380013
Pcdha5 / protocadherin alpha 5 / Q9Y5H7*ENSMUSG0000010309213
Pcdha11 / protocadherin alpha 11 / Q9Y5I1*ENSMUSG0000010220613
Pcdh9 / protocadherin 9 / Q9HC56*ENSMUSG0000005542113
Q91Y13 / Pcdha7 / Protocadherin alpha-7 / Q9Y5H5* / PCDHA9* / Q9UN72* / protocadherin alpha 9*ENSMUSG0000010431813
Pcdh1 / protocadherin 1 / Q08174*ENSMUSG0000005137512
Pcdhga9ENSMUSG0000010244011
Pcdh20 / Q8BIZ0 / Protocadherin-20 / Q8N6Y1* / AL592490.1*ENSMUSG0000005050511
Pcdhgc3 / protocadherin gamma subfamily C, 3ENSMUSG0000010291810


Protein motifs (from Interpro)
Interpro ID Name
 IPR002126  Cadherin
 IPR015919  Cadherin-like
 IPR020894  Cadherin conserved site
 IPR030718  Protocadherin-15


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001964 startle response IMP
 biological_processGO:0002009 morphogenesis of an epithelium IMP
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007155 cell adhesion IBA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA
 biological_processGO:0007267 cell-cell signaling IBA
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0042491 inner ear auditory receptor cell differentiation IMP
 biological_processGO:0045494 photoreceptor cell maintenance ISO
 biological_processGO:0048839 inner ear development IMP
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IMP
 biological_processGO:0050953 sensory perception of light stimulus ISO
 biological_processGO:0050957 equilibrioception ISO
 biological_processGO:0050973 detection of mechanical stimulus involved in equilibrioception IMP
 biological_processGO:0051017 actin filament bundle assembly IMP
 biological_processGO:0060013 righting reflex IMP
 biological_processGO:0060088 auditory receptor cell stereocilium organization IMP
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0001750 photoreceptor outer segment ISO
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space ISO
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISS
 cellular_componentGO:0032420 stereocilium IDA
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0045202 synapse ISO
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av/Pcdh15av
Genetic Background: involves: K

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 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: Ssbp3Gt(RRB078)Byg/Ssbp3Gt(RRB078)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 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: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15m5Btlr/Pcdh15m5Btlr
Genetic Background: C57BL/6J-Pcdh15m5Btlr

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-Jfb/Pcdh15av-Jfb
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Pcdh15m1Btlr/Pcdh15m1Btlr
Genetic Background: C57BL/6J-Pcdh15m1Btlr

Allelic Composition: Pcdh15m3Btlr/Pcdh15m3Btlr
Genetic Background: C57BL/6J-Pcdh15m3Btlr

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

Allelic Composition: Pcdh15m4Btlr/Pcdh15m4Btlr
Genetic Background: C57BL/6J-Pcdh15m4Btlr

Allelic Composition: Pcdh15m5Btlr/Pcdh15m5Btlr
Genetic Background: C57BL/6J-Pcdh15m5Btlr

 MP:0001395 bi-directional circling "circling behavior exhibited in both clockwise and counterclockwise directions" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ssbp3Gt(RRB078)Byg/Ssbp3Gt(RRB078)Byg
Genetic Background: involves: 129P2/OlaHsd

 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]
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Allelic Composition: Trp53tm1Ldo/Trp53+
Genetic Background: B6.129S7-Trp53tm1Ldo

Allelic Composition: Pcdh15m2Btlr/Pcdh15m2Btlr
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcdh15m3Btlr/Pcdh15m3Btlr
Genetic Background: C57BL/6J-Pcdh15m3Btlr

Allelic Composition: Pcdh15m5Btlr/Pcdh15m5Btlr
Genetic Background: C57BL/6J-Pcdh15m5Btlr

 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: Pcdh15m3Btlr/Pcdh15m3Btlr
Genetic Background: C57BL/6J-Pcdh15m3Btlr

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Ssbp3Gt(RRB078)Byg/Ssbp3Gt(RRB078)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Pcdh15m3Btlr/Pcdh15m3Btlr
Genetic Background: C57BL/6J-Pcdh15m3Btlr

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-Jfb/Pcdh15av-Jfb
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

 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: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Oca2p-J/Oca2p-J
Genetic Background: C3H/HeJ-Oca2p-J/J

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-Jfb/Pcdh15av-Jfb
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Pcdh15av/Pcdh15av
Genetic Background: involves: K

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 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: Pcdh15av/Pcdh15av
Genetic Background: involves: K

 MP:0002622 abnormal cochlear hair cell morphology "malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Pcdh15av/Pcdh15av
Genetic Background: involves: K

 MP:0002855 abnormal cochlear ganglion morphology "malformation, malfunction or absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcdh15av/Pcdh15av
Genetic Background: involves: K

 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: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0003143 enlarged otoliths "increased average size of the crystalline calciferous particles adhering to the otolithic membrane" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:67072]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0003151 absent tunnel of Corti "complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:32991]
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Allelic Composition: Pcdh15av/Pcdh15av
Genetic Background: involves: K

 MP:0003308 abnormal cochlear sensory epithelium 
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

 MP:0003637 cochlear ganglion hypoplasia "reduced numbers of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

 MP:0003825 abnormal pillar cell morphology "abnormalities of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 MP:0004300 abnormal supporting cell morphology "any structural abnormality in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 MP:0004303 abnormal Hensen cell morphology "any structural abnormality in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters cells " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 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: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 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: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 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: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0004415 abnormal cochlear nerve compound action potential "anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0004492 abnormal orientation of inner hair cell stereociliary bundles "misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

 MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

 MP:0004524 short cochlear hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004529 decreased outer hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0004531 short outer hair cell stereocilia "reduced length 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: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004532 abnormal inner hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0004533 fused inner hair cell stereocilia "coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

 MP:0004534 decreased inner hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

 MP:0004536 short inner hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004577 abnormal cochlear hair cell inter-stereocilial links "any structural abnormality in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

 MP:0004578 abnormal cochlear hair bundle tip links "any structural abnormality in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 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: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0004738 abnormal brainstem auditory evoked potential "anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004748 increased susceptibility to age-related hearing loss "greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

 MP:0004813 absent linear vestibular evoked potential "absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15m4Btlr/Pcdh15m4Btlr
Genetic Background: C57BL/6J-Pcdh15m4Btlr

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-Jfb/Pcdh15av-Jfb
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

 MP:0005323 dystonia "impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533]
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Allelic Composition: Pcdh15m2Btlr/Pcdh15m2Btlr
Genetic Background: involves: C57BL/6J

 MP:0006089 abnormal saccule morphology "malformation in the smaller of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0006359 absent startle reflex "failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

 MP:0010323 retropulsion "a tendency to step or walk backwards" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15m2Btlr/Pcdh15m2Btlr
Genetic Background: involves: C57BL/6J

 MP:0011061 abnormal inner hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15roda/Pcdh15roda
Genetic Background: BALB/c-Pcdh15roda

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0011062 abnormal outer hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells" [GO:0060091]
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Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 MP:0011064 abnormal vestibular hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells" [GO:0060091, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

 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: Scn8a4J/Scn8a4J
Genetic Background: C57BL/6J-Scn8a4J/J

Allelic Composition: Pcdh15av-3J/Pcdh15av-3J
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15av-6J/Pcdh15av-6J
Genetic Background: B6(129P2)-Pcdh15av-6J

Allelic Composition: Pcdh15av-J/Pcdh15av-J
Genetic Background: B6.BKS-Pcdh15av-J/J

Allelic Composition: Pcdh15av-2J/Pcdh15av-2J
Genetic Background: B6C3Fe a/a-Pcdh15av-2J/J

Allelic Composition: Cdh23v-2J/Cdh23+,Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Cdh23v-2J Pcdh15av-3J

Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Myo7ash1-8J/Myo7a+,Pcdh15av-3J/Pcdh15+
Genetic Background: B6.Cg-Myo7ash1-8J Pcdh15av-3J

Allelic Composition: Pcdh15av-3J/Pcdh15+,Ush1gjs/Ush1g+
Genetic Background: B6.Cg-Pcdh15av-3J Ush1gjs

Allelic Composition: Pcdh15av-3J/Pcdh15+
Genetic Background: C57BL/6J-Pcdh15av-3J/J

Allelic Composition: Pcdh15tm1.1Ugds/Pcdh15tm1.1Ugds,Myo15tm1.1(cre)Ugds/Myo15+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Pcdh15tm2.1Mll/Pcdh15tm2.1Mll
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

  


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






 

1 s.

 
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