| Primary Identifier | MGI:1919638 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 72388 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein serine kinase activity. Involved in skin development. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study popliteal pterygium syndrome. Orthologous to human RIPK4 (receptor interacting serine/threonine kinase 4). PHENOTYPE: Mutations in this gene result in perinatal lethality, impaired keratinocyte differentiation, impaired skin barrier function, cleft palate and and epithelial fusion phenotypes associated with abnormal periderm development. Homozygous mutant mice lack oral, anal, and nasal openings and display shorter limbs and tail that are partially fused to the body cavity. [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
