Primary Identifier | MGI:98958 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 22418 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables frizzled binding activity; protein domain specific binding activity; and receptor ligand activity. Involved in several processes, including heart development; neuron differentiation; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including Wnt signaling pathway, planar cell polarity pathway; embryonic morphogenesis; and morphogenesis of an epithelium. Located in cell surface and extracellular matrix. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; limb; and sensory organ. Used to study Robinow syndrome. Human ortholog(s) of this gene implicated in autosomal dominant Robinow syndrome 1. Orthologous to human WNT5A (Wnt family member 5A). PHENOTYPE: Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally. [provided by MGI curators] |