| Primary Identifier | MGI:2443258 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 65964 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity; MAP kinase kinase kinase activity; and magnesium ion binding activity. Involved in MAPK cascade; embryonic digit morphogenesis; and protein phosphorylation. Acts upstream of or within cytoskeleton organization. Located in cytoplasm and nucleus. Is expressed in heart; limb; limb bud; and urinary system. Used to study split hand-foot malformation. Human ortholog(s) of this gene implicated in centronuclear myopathy 6 with fiber-type disproportion. Orthologous to human MAP3K20 (mitogen-activated protein kinase kinase kinase 20). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality at E9.5 with growth retardation. Mice homozygous for an allele lacking the SAM domain exhibit low penetrant unilateral complex hindlimb duplication phenotype. [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
