Primary Identifier | MGI:1347521 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 26564 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Wnt-protein binding activity; frizzled binding activity; and mitogen-activated protein kinase kinase kinase binding activity. Involved in positive regulation of DNA-templated transcription and positive regulation of canonical Wnt signaling pathway. Acts upstream of or within several processes, including cartilage development; cell surface receptor signaling pathway; and embryonic morphogenesis. Predicted to be located in several cellular components, including cell surface; microtubule; and neuronal cell body. Predicted to be part of receptor complex. Predicted to be active in several cellular components, including axon; glutamatergic synapse; and postsynapse. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; neural ectoderm; and sensory organ. Used to study autosomal recessive Robinow syndrome. Human ortholog(s) of this gene implicated in autosomal recessive Robinow syndrome; brachydactyly type B1; and cleft palate. Orthologous to human ROR2 (receptor tyrosine kinase like orphan receptor 2). PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first few hours after birth. They display respiratory and cardiovascular abnormalities as well as a variety of skeletal defects. [provided by MGI curators] |