Primary Identifier | MGI:103177 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 17528 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within cell-cell junction maintenance and myelination. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. Is expressed in nervous system; sensory organ; and turbinate bone primordium. Used to study Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease type 3; PCWH syndrome; and neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple). Orthologous to human MPZ (myelin protein zero). PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit premature death, infertility, neurological behavior defects, and demyelination. Mice homozygous for a knock-out allele exhibit abnormal myelination and neurological behavior defects. [provided by MGI curators] |