Primary Identifier | MGI:2444521 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 225743 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Acts upstream of or within several processes, including forelimb morphogenesis; nervous system development; and positive regulation of BMP signaling pathway. Located in nucleus. Part of protein-containing complex. Is expressed in cerebral cortex ventricular layer; cortical plate; and embryo. Orthologous to human ARK2C (arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C). PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial neonatal lethality followed by complete postnatal lethality, growth retardation, abnormal joint mobility, cyanosis, abnormal motor neuron innervation pattern and abnormal phrenic nerve innervation pattern to diaphragm. [provided by MGI curators] |