| 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 7.1.0) Predicted to enable keratin filament binding activity. Acts upstream of or within keratinocyte differentiation; response to radiation; 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
