| Primary Identifier | MGI:96691 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 16667 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable structural molecule activity. Involved in several processes, including hair follicle morphogenesis; positive regulation of hair follicle development; and positive regulation of translation. Acts upstream of or within intermediate filament organization; keratinization; and morphogenesis of an epithelium. Located in cell periphery and cytoplasm. Is active in cornified envelope. Is expressed in several structures, including alimentary system; exocrine system; eyelid epithelium; immune system; and skin. Used to study pachyonychia congenita. Human ortholog(s) of this gene implicated in ectodermal dysplasia; pachyonychia congenita; and steatocystoma multiplex. Orthologous to human KRT17 (keratin 17). PHENOTYPE: Mice homozygous for a knock-out allele display age- and strain-dependent alopecia associated with frequent absence of vibrissae, increased hair fragility, abnormal hair cycling, altered hair follicle morphology, and apoptosis in matrix cells. Homozygosity for an allele expressing peptides with a non-functional NLS leads to enlarged skin keratinocyte nuclei. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
