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Cntn1 Gene Detail
Summary
  • Symbol
    Cntn1
  • Name
    contactin 1
  • Synonyms
    CNTN, F3cam, usl
  • Feature Type
    protein coding gene
  • IDs
    MGI:105980
    NCBI Gene: 12805
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:91949034-92239834 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 46.39 cM, cytoband F
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10037 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105980
 protein coding gene Chr15:91949034-92239848 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022251
 protein coding gene Chr15:93396213-93704859 (+)
A/J MGP_AJ_G0022210
 protein coding gene Chr15:89787595-90099008 (+)
AKR/J MGP_AKRJ_G0022185
 protein coding gene Chr15:92456181-92757477 (+)
BALB/cJ MGP_BALBcJ_G0022216
 protein coding gene Chr15:89911275-90203872 (+)
C3H/HeJ MGP_C3HHeJ_G0021986
 protein coding gene Chr15:92458896-92766746 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022661
 protein coding gene Chr15:96786122-97117390 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020187
 protein coding gene Chr15:85895841-86189547 (+)
CAST/EiJ MGP_CASTEiJ_G0021508
 protein coding gene Chr15:93269513-93588126 (+)
CBA/J MGP_CBAJ_G0021953
 protein coding gene Chr15:100094345-100449188 (+)
DBA/2J MGP_DBA2J_G0022080
 protein coding gene Chr15:89237025-89531236 (+)
FVB/NJ MGP_FVBNJ_G0022059
 protein coding gene Chr15:88263944-88557541 (+)
LP/J MGP_LPJ_G0022151
 protein coding gene Chr15:93570961-93880676 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022079
 protein coding gene Chr15:104445473-104784796 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022676
 protein coding gene Chr15:92552162-92864864 (+)
PWK/PhJ MGP_PWKPhJ_G0021249
 protein coding gene Chr15:89277733-89582374 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021083
 protein coding gene Chr15:92296235-92606374 (+)
WSB/EiJ MGP_WSBEiJ_G0021557
 protein coding gene Chr15:93016543-93331143 (+)



Homology
more
  • Human Ortholog
    CNTN1, contactin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CNTN1, contactin 1
  • Synonyms
    CMYO12, CMYP12, F3, GP135, MYPCN
  • Links
    NCBI Gene ID: 1272
    neXtProt AC: NX_Q12860
    UniProt: Q12860

  • Chr Location
    12q12; chr12:40692439-41072415 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cntn1 mouse models; 1 with human CNTN1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 3 alleles in 4 genetic backgrounds
    43 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1451
  • Tissues
    234
  • cDNA Data
    23
  • Literature Summary
    31
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12805 NCBI Gene Model | MGI Sequence Detail 290801 C57BL/6J ±  kb
    transcript NM_007727 RefSeq | MGI Sequence Detail 5865 ZRU/MplStud  
    polypeptide P12960 UniProt | EBI | MGI Sequence Detail 1020 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 2
      cDNA 24
      Primer pair 5
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33660, MGD-MRK-9694, MGI:2146221, MGI:5286077
    References
    more
    • Summaries
      All 126
      Developmental Gene Expression 31
      Diseases 2
      Gene Ontology 11
      Phenotypes 43
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:351386 Yu HL, et al., Netrin-1 Is an Important Mediator in Microglia Migration. Int J Mol Sci. 2024 Jun 27;25(13)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory