Primary Identifier | MGI:2664102 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 333329 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cyclic nucleotide-activated monoatomic ion channel activity. Acts upstream of or within several processes, including photoreceptor cell maintenance; photoreceptor cell outer segment organization; and sensory perception of smell. Located in membrane and photoreceptor outer segment. Is expressed in several structures, including head mesenchyme; incisor; limb; sensory organ; and skeleton. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 45. Orthologous to human CNGB1 (cyclic nucleotide gated channel subunit beta 1). PHENOTYPE: Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling. [provided by MGI curators] |