| Primary Identifier | MGI:97307 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18016 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable several functions, including actin binding activity; beta-catenin binding activity; and integrin binding activity. Involved in lens fiber cell differentiation. Acts upstream of or within several processes, including hippocampus development; negative regulation of MAPK cascade; and negative regulation of cell population proliferation. Located in several cellular components, including adherens junction; cleavage furrow; and ruffle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study coloboma; otitis media; renal cell carcinoma; and vestibular schwannomatosis. Human ortholog(s) of this gene implicated in gastrointestinal system cancer (multiple); malignant pleural mesothelioma; meningioma (multiple); neurilemmoma; and vestibular schwannomatosis. Orthologous to human NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). PHENOTYPE: Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2. Mice homozygous for a conditional allele activated in the eye exhibit coloboma. [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
