| Primary Identifier | MGI:96688 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 16664 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable keratin filament binding activity. Acts upstream of or within keratinocyte differentiation and stem cell differentiation. Located in basal part of cell; cell periphery; and keratin filament. Is active in cornified envelope. Is expressed in several structures, including alimentary system; autopod; genitourinary system; integumental system; and sensory organ. Used to study epidermolysis bullosa simplex and epidermolysis bullosa simplex Dowling-Meara type. Human ortholog(s) of this gene implicated in Naegeli-Franceschetti-Jadassohn syndrome; dermatopathia pigmentosa reticularis; and epidermolysis bullosa simplex. Orthologous to human KRT14 (keratin 14). PHENOTYPE: Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. [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
