Primary Identifier | MGI:88437 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 12799 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Acts upstream of or within adult locomotory behavior; neurogenesis; and response to toxic substance. Located in cytoplasm; membrane; and myelin sheath. Is expressed in adrenal gland; gut; nervous system; and reproductive system. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Orthologous to human CNP (2',3'-cyclic nucleotide 3' phosphodiesterase). PHENOTYPE: Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death. [provided by MGI curators] |