Primary Identifier | MGI:1274781 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 19876 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable LRR domain binding activity; axon guidance receptor activity; and identical protein binding activity. Involved in several processes, including circulatory system development; neuron development; and regulation of gene expression. Acts upstream of or within several processes, including axon guidance; heart development; and mammary duct terminal end bud growth. Located in axolemma. Is expressed in several structures, including autopod; central nervous system; genitourinary system; jaw; and sensory organ. Used to study cystic kidney disease and lung cancer. Human ortholog(s) of this gene implicated in autosomal recessive congenital nystagmus; combined pituitary hormone deficiency; congenital nystagmus; multiple myeloma; and plasmacytoma. Orthologous to human ROBO1 (roundabout guidance receptor 1). PHENOTYPE: Homozygous null mice die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for one null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. Homozygotes for an ENU-induced mutation display craniofacial and cardiac anomalies and polycystic kidneys. [provided by MGI curators] |