Primary Identifier | MGI:97774 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 19132 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable structural molecule activity. Acts upstream of or within intermediate filament cytoskeleton organization. Located in C-fiber; neurofilament; and photoreceptor outer segment membrane. Is expressed in several structures, including alimentary system; diaphragm; nervous system; and olfactory system. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 1. Orthologous to human PRPH (peripherin). PHENOTYPE: Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons. [provided by MGI curators] |