Primary Identifier | MGI:2384910 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 216019 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable fructokinase activity and glucokinase activity. Involved in intracellular glucose homeostasis. Located in photoreceptor inner segment. Is expressed in several structures, including alimentary system; central nervous system; limb; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in retinitis pigmentosa. Orthologous to human HKDC1 (hexokinase domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to genotyping. Mice heterozygous for a knock-out allele exhibit impaired glucose tolerance and female-specific increases in hepatic triglyceride levels. Some homozygous knockouts are viable but suffer from progressive retinal degeneration. [provided by MGI curators] |