| Primary Identifier | MGI:1346872 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 26401 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables JUN kinase kinase kinase activity; MAP kinase kinase activity; and cytoskeletal protein binding activity. Acts upstream of or within several processes, including eyelid development in camera-type eye; positive regulation of actin filament polymerization; and transforming growth factor beta receptor signaling pathway. Part of filamentous actin. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in 46,XY sex reversal 6; breast cancer; gastrointestinal system cancer (multiple); and lung non-small cell carcinoma. Orthologous to human MAP3K1 (mitogen-activated protein kinase kinase kinase 1). PHENOTYPE: Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing. Mice homozygous for an ENU-induced mutation are severely deaf. [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
