Primary Identifier | MGI:3045256 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 329628 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; hippo signaling; and nervous system development. Acts upstream of or within several processes, including cell surface receptor signaling pathway; condensed mesenchymal cell proliferation; and ossification involved in bone maturation. Located in apical part of cell. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; hemolymphoid system gland; and metanephros. Human ortholog(s) of this gene implicated in Hennekam syndrome and Van Maldergem syndrome 2. Orthologous to human FAT4 (FAT atypical cadherin 4). PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, reduced birth body size, curly tails, kyphosis, small lungs, renal cysts, and defects in sternum and vertebrae morphology, neural tube width, cochlear elongation, stereocilia orientation, kidney development, and intestinal elongation. [provided by MGI curators] |