| Primary Identifier | MGI:96699 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 16681 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytoskeletal protein binding activity. A structural constituent of skin epidermis. Involved in positive regulation of epidermis development. Acts upstream of or within intermediate filament organization and keratinocyte development. Located in cytoplasm and keratin filament. Is expressed in several structures, including gut; integumental system; male reproductive gland or organ; nervous system; and neural retina. Used to study bullous congenital ichthyosiform erythroderma. Human ortholog(s) of this gene implicated in bullous congenital ichthyosiform erythroderma and ichthyosis. Orthologous to human KRT2 (keratin 2). PHENOTYPE: ENU-induced mutant mice exhibit scaly skin and increased pigmentation in the tail, ears and feet. Mice homozygous for a knock-out allele show scaly skin, acanthosis, hyperkeratosis, increased water loss, ear skin inflammation, and aberrant aggregation of keratin 10 in suprabasal epidermal keratinocytes. [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
