| Primary Identifier | MGI:109168 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 14107 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in epithelial cell morphogenesis; establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis; and lens development in camera-type eye. Acts upstream of or within actin filament organization; cell-cell adhesion; and establishment or maintenance of cell polarity. Located in cell junction; filopodium; and lamellipodium. Is active in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; embryo mesenchyme; and sensory organ. Used to study facioscapulohumeral muscular dystrophy and nephrotic syndrome. Human ortholog(s) of this gene implicated in colorectal cancer; esophagus squamous cell carcinoma; lung non-small cell carcinoma; lung small cell carcinoma; and oral squamous cell carcinoma. Orthologous to human FAT1 (FAT atypical cadherin 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects and perinatal lethality. Mice homozygous for a hypomorphic allele exhibit altered shoulder girdle and facial musculature, retinal defects, abnormal inner earpatterning and kidney defects. [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
