Primary Identifier | MGI:107813 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 22152 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables netrin receptor binding activity. Involved in axon guidance and netrin-activated signaling pathway. Located in several cellular components, including filopodium; growth cone; and lamellipodium. Is expressed in several structures, including alimentary system; cardiovascular system; integumental system; nervous system; and sensory organ. Used to study congenital fibrosis of the extraocular muscles. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 1 and congenital fibrosis of the extraocular muscles 3A. Orthologous to human TUBB3 (tubulin beta 3 class III). PHENOTYPE: Mice homozygous for a knock-in allele exhibit neonatal lethality associated with respiratory distress, abnormal corpus callosum morphology, abnormal cranial nerves, and defective axon guidance. [provided by MGI curators] |