Primary Identifier | MGI:95721 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 14620 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable gap junction channel activity. Acts upstream of or within placenta development. Located in cytoplasm and gap junction. Is expressed in several structures, including alimentary system; early conceptus; integumental system; reproductive system; and sensory organ. Used to study erythrokeratodermia variabilis. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma and erythrokeratodermia variabilis. Orthologous to human GJB3 (gap junction protein beta 3). PHENOTYPE: Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation. [provided by MGI curators] |