| Primary Identifier | MGI:1920970 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 73720 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within epidermis development. Located in cornified envelope. Is expressed in several structures, including alimentary system; placenta; respiratory system; sensory organ; and skin. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in ectodermal dysplasia 15. Orthologous to human CST6 (cystatin E/M). PHENOTYPE: Mice homozygous for a spontaneous mutation show a hyperplastic, hyperkeratotic epidermis, abnormally large mitochondria, absent lamellar granules, excessive epidermal and hair follicle cornification, increased transepidermal water loss and postnatal death, probably due to dehydration. [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
