Primary Identifier | MGI:108554 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 13131 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling adaptor activity. Involved in nervous system development; reelin-mediated signaling pathway; and regulation of synapse maturation. Acts upstream of or within several processes, including adult walking behavior; negative regulation of neurogenesis; and nervous system development. Located in perinuclear region of cytoplasm. Is active in cytoplasm and glutamatergic synapse. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 37. Orthologous to human DAB1 (DAB adaptor protein 1). PHENOTYPE: Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration. [provided by MGI curators] |