| 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 9.1.0) Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within several processes, including bone mineralization; bone remodeling; and nervous system development. Predicted to be located in cytoplasm. 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] |