Primary Identifier | MGI:1923500 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 109052 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of skin epidermis. Acts upstream of or within hematopoietic progenitor cell differentiation. Is active in cornified envelope. Is expressed in incisor; larynx; skin; urethra; and ventral grey horn. Orthologous to human KRT75 (keratin 75). PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators] |