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Protein Coding Gene : Cntn1 contactin 1

Primary Identifier  MGI:105980 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  12805
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables carbohydrate binding activity. Involved in central nervous system myelin formation and locomotory behavior. Acts upstream of or within several processes, including nervous system development; positive regulation of neuron projection development; and positive regulation of sodium ion transport. Located in myelin sheath. Is active in postsynaptic membrane and presynaptic membrane. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study Compton-North congenital myopathy. Human ortholog(s) of this gene implicated in Compton-North congenital myopathy. Orthologous to human CNTN1 (contactin 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • F3cam,
  • unsteady small lethal,
  • F3 neuronal cell adhesion molecule,
  • Cntn1,
  • usl,
  • MGI:5286077,
  • CNTN,
  • expressed sequence AW495098,
  • AW495098,
  • MGD-MRK-9694,
  • MGI:2146221,
  • contactin 1,
  • MGD-MRK-33660

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For