Primary Identifier | MGI:1916323 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 69073 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Acts upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell cortex; cell junction; and cell leading edge. Is expressed in several structures, including alimentary system; choroid plexus; lower urinary tract; olfactory epithelium; and skin. Human ortholog(s) of this gene implicated in ectodermal dysplasia 12. Orthologous to human KDF1 (keratinocyte differentiation factor 1). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals. [provided by MGI curators] |