Primary Identifier | MGI:88274 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 12385 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity and identical protein binding activity. Involved in negative regulation of protein localization to nucleus. Acts upstream of or within several processes, including apical junction assembly; negative regulation of neuroblast proliferation; and regulation of signal transduction. Located in several cellular components, including intercalated disc; lamellipodium; and zonula adherens. Part of flotillin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study patterned macular dystrophy 2. Human ortholog(s) of this gene implicated in patterned macular dystrophy 2. Orthologous to human CTNNA1 (catenin alpha 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. Inducible KO in endothelial cells reduces lifespan and affects retinal angiogenesis. [provided by MGI curators] |