Primary Identifier | MGI:2183747 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 224014 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable actin filament binding activity. Acts upstream of or within lamellipodium assembly and microspike assembly. Located in filopodium and lamellipodium. Is expressed in hand; nervous system; pancreas; and sensory organ. Used to study Charcot-Marie-Tooth disease type 4H. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H. Orthologous to human FGD4 (FYVE, RhoGEF and PH domain containing 4). PHENOTYPE: Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages. [provided by MGI curators] |