ENSMUSG00000017167


Mus musculus

Features
Gene ID: ENSMUSG00000017167
  
Biological name :Cntnap1
  
Synonyms : Cntnap1 / Contactin-associated protein 1 / O54991
  
Possible biological names infered from orthology : P78357
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: D
Gene start: 101170523
Gene end: 101190724
  
Corresponding Affymetrix probe sets: 10381272 (MoGene1.0st)   1421580_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099398
NCBI entrez gene - 53321     See in Manteia.
MGI - MGI:1858201
RefSeq - XM_006533730
RefSeq - NM_016782
RefSeq - XM_006533728
RefSeq - XM_006533729
RefSeq Peptide - NP_058062
swissprot - O54991
Ensembl - ENSMUSG00000017167
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cntnap1ENSDARG00000074524Danio rerio
 CNTNAP1ENSGALG00000003123Gallus gallus
 P78357ENSG00000108797Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9CPW0 / Cntnap2 / Contactin-associated protein-like 2 / Q9UHC6*ENSMUSG0000003941942
Q0V8T9 / Cntnap5a / Contactin-associated protein like 5-1 / Q8WYK1* / CNTNAP5* / contactin associated protein like 5*ENSMUSG0000007069536
Q0V8T7 / Cntnap5c / Contactin-associated protein like 5-3 / Q8WYK1* / CNTNAP5* / contactin associated protein like 5*ENSMUSG0000003804835
Q0V8T8 / Cntnap5b / Contactin-associated protein like 5-2 / Q8WYK1* / CNTNAP5* / contactin associated protein like 5*ENSMUSG0000006702835
Q99P47 / Cntnap4 / Contactin-associated protein-like 4 / Q9C0A0*ENSMUSG0000003177235
Cntnap3 / contactin associated protein-like 3 / Q96NU0* / Q9BZ76* / CNTNAP3B* / BX088645.1* / contactin associated protein like 3B*ENSMUSG0000003306332
Nrxn2 / neurexin II / P58401* / Q9P2S2* / neurexin 2*ENSMUSG0000003376821
Nrxn3 / Q6P9K9 / Q8C985 / Neurexin-3 / Q9Y4C0* / Q9HDB5*ENSMUSG0000006639220
Nrxn1 / P0DI97 / Q9CS84 / Neurexin-1 / P58400* / Q9ULB1*ENSMUSG0000002410919


Protein motifs (from Interpro)
Interpro ID Name
 IPR000421  Coagulation factor 5/8 C-terminal domain
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR002181  Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
 IPR003585  Neurexin/syndecan/glycophorin C
 IPR008979  Galactose-binding-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR028872  Contactin-associated protein 1
 IPR036056  Fibrinogen-like, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002175 protein localization to paranode region of axon IMP
 biological_processGO:0007010 cytoskeleton organization IMP
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0019227 neuronal action potential propagation IMP
 biological_processGO:0022010 central nervous system myelination IEA
 biological_processGO:0022011 myelination in peripheral nervous system IEA
 biological_processGO:0030913 paranodal junction assembly IMP
 biological_processGO:0031175 neuron projection development IGI
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0071205 protein localization to juxtaparanode region of axon IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0033010 paranodal junction IEA
 cellular_componentGO:0033270 paranode region of axon IDA
 cellular_componentGO:0043209 myelin sheath IDA
 molecular_functionGO:0017124 SH3 domain binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000743 muscle spasms "muscular twitching, cramps and seizures ; frequently associated with calcium deficiency, hypoparathyroidism, vitamin D deficiency or alkalosis " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-3J/Cntnap1shm-3J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

Allelic Composition: Cntnap1shm-5J/Cntnap1shm-5J
Genetic Background: B6.Cg-Cntnap1shm-5J/GrsrJ

Allelic Composition: Cntnap1shm/Cntnap1shm-2J
Genetic Background: Not Specified

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Gldntm1Pele/Gldntm1Pele
Genetic Background: involves: ICR

 MP:0000754 partial paralysis "partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1M1Btlr/Cntnap1M1Btlr
Genetic Background: C57BL/6J-Cntnap1M1Btlr

Allelic Composition: Cntnap1M1Btlr/Cntnap1+
Genetic Background: C57BL/6J-Cntnap1M1Btlr

 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: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-5J/Cntnap1shm-5J
Genetic Background: B6.Cg-Cntnap1shm-5J/GrsrJ

 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: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Gldntm1Pele/Gldntm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-3J/Cntnap1shm-3J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

Allelic Composition: Cntnap1shm/Cntnap1shm-2J
Genetic Background: Not Specified

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

 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]
Show

Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-3J/Cntnap1shm-3J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

Allelic Composition: Cntnap1shm-5J/Cntnap1shm-5J
Genetic Background: B6.Cg-Cntnap1shm-5J/GrsrJ

Allelic Composition: Cntnap1shm/Cntnap1shm-2J
Genetic Background: Not Specified

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-3J/Cntnap1shm-3J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

Allelic Composition: Cntnap1shm/Cntnap1shm-2J
Genetic Background: Not Specified

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 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: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Cntnap1shm-5J/Cntnap1shm-5J
Genetic Background: B6.Cg-Cntnap1shm-5J/GrsrJ

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004263 abnormal limb posture "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1shm-5J/Cntnap1shm-5J
Genetic Background: B6.Cg-Cntnap1shm-5J/GrsrJ

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele
Genetic Background: Not Specified

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Gldntm1Pele/Gldntm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * ICR

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Gldntm1Pele/Gldntm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele
Genetic Background: involves: ICR

 MP:0009393 abnormal resting posture "atypical position of the limbs compared to normal carriage when the body is inactive" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

Allelic Composition: Cntnap1shm-3J/Cntnap1shm-3J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

 MP:0010050 hypermyelination "anomaly in the process by which myelin sheaths are formed and maintained around neurons resulting in increased myelin formation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010732 abnormal node of Ranvier morphology "any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon" [PMID:18929652]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0010734 abnormal paranode morphology "any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode" [PMID:16224497]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0010735 abnormal paranodal axoglial junction morphology "any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components" [PMID:19224642]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0010748 abnormal visual evoked potential "anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception" [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: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
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Allelic Composition: Cntnap1shm/Cntnap1shm
Genetic Background: SHM/Nem

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Cntnap1tm1Bhat/Cntnap1tm1Bhat
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Gldntm1Pele/Gldntm1Pele
Genetic Background: involves: ICR

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * ICR

 MP:0014185 cerebellum atrophy "acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:Anna]
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Allelic Composition: Fahtm1Mgo/Fahtm1Mgo
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000055022 Cntn1 / P12960 / Mus musculus contactin 1 (Cntn1), transcript variant 4, mRNA. / Q12860* / contactin 1*  / complex
 ENSMUSG00000026442 Nfasc / Q810U3 / Neurofascin / O94856*  / reaction / complex






 

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