Primary Identifier | MGI:2384589 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 235439 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Acts upstream of or within negative regulation of autophagy; nervous system development; and neuromuscular process controlling balance. Is expressed in several structures, including jaw bone; nervous system; sensory organ; thymus primordium; and vibrissa. Orthologous to human HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1). PHENOTYPE: Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. [provided by MGI curators] |