These transgenic mice express HA-tagged human RAB9A, member RAS oncogene family, gene (RAB9A) under the control of the CAG promoter (CAGGS, chicken beta actin promoter/enhancer coupled with the cytomegalovirus immediate-early enhancer). Transgene expression is detected in liver, brain, kidney, and skin, and is highest in brain and liver. Expression is approximately 30-fold higher than endogenous RAB9 protein in the liver. Mice that are hemizygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. The Donating Investigator has not attempted to make the strain homozygous. This mutant mouse strain may be useful in studies of Niemann-Pick, type C (NP-C) disease.
Double mutant mice that carry this transgene and are homozygous for the Npc1m1N allele (see Stock No. 003092) exhibit a less severe phenotype than mice homozygous for the Npc1m1N allele. The double mutant mice lose weight as quickly, have reduced ganglioside storage and an increase in longevity.
Importation of this model was supported the National Niemann-Pick Disease Foundation.
