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 8.0.0) 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 glutamatergic synapse; 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] |