| Primary Identifier | MGI:95781 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 14688 |
| 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 GTPase binding activity; alkylglycerophosphoethanolamine phosphodiesterase activity; and spectrin binding activity. Acts upstream of or within several processes, including phospholipase C-activating G protein-coupled receptor signaling pathway; retina development in camera-type eye; and sensory perception of taste. Located in photoreceptor outer segment. Part of heterotrimeric G-protein complex. Is active in synapse. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; autosomal dominant intellectual developmental disorder 42; congestive heart failure; and myelodysplastic syndrome. Orthologous to human GNB1 (G protein subunit beta 1). PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. Heterozygosity for the p.K78R mutation leads to decreased body size, abnormal locomotor behavior, impaired spatial learning and memory and increased susceptibility to seizures. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
