Primary Identifier | MGI:97383 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 18211 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including GPI-linked ephrin receptor activity; nerve growth factor binding activity; and nerve growth factor receptor activity. Involved in circadian rhythm; negative regulation of neuron apoptotic process; and nervous system development. Acts upstream of or within several processes, including behavioral response to formalin induced pain; nerve growth factor signaling pathway; and nervous system development. Located in axon; cell surface; and endosome. Part of protein-containing complex. Is expressed in several structures, including branchial arch; nervous system; reproductive system; sensory organ; and trunk. Used to study hereditary sensory neuropathy. Human ortholog(s) of this gene implicated in Alzheimer's disease; hereditary sensory neuropathy; hereditary sensory neuropathy type 4; and schizophrenia. Orthologous to human NTRK1 (neurotrophic receptor tyrosine kinase 1). PHENOTYPE: Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling. Homozygosity for the p.R685A mutation affects sympathetic neuron development. [provided by MGI curators] |