STOCK Tg(CAG-RAB9A)500Repa/J

Stock number: 009678
Research areas: Mouse/Human Gene Homologs

Description

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). Expression is approximately 30-fold higher than endogenous RAB9 protein in the liver. This mutant mouse strain may be useful in studies of Niemann-Pick, type C (NP-C) disease.

Detailed description

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 Npc1^m1N allele (see Stock No. 003092) exhibit a less severe phenotype than mice homozygous for the Npc1^m1N 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.

Development

A transgenic construct containing a 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), was injected into fertilized (C57BL/6 X CBA)F1 X C57BL/6 mouse eggs. Founder line 500 was subsequently established. The mice were first crossed to C57BL/6, then crossed to BALB/c mice, and then maintained by intercrossing. Upon arrival at The Jackson Laboratory, the mice were crossed to CB6F1/J (Stock No. 100007) at least once to establish the colony.

Allele

Symbol: Tg(CAG-RAB9A)500Repa
Name: transgene insertion 500, Richard E Pagano
MGI accession ID: MGI:3849445
Generation method: Transgenic
Attributes: Inserted expressed sequence; Humanized sequence
Synonyms: Rab9^TG; Rab9TG
Marker symbol: Tg(CAG-RAB9A)500Repa
Marker name: transgene insertion 500, Richard E Pagano
Marker synonyms: Rab9^TG; Rab9TG
Chromosome: UN
Strain of origin: (C57BL/6 x CBA)F1 x C57BL/6
Expressed genes: RAB9A,RAB9A, member RAS oncogene family,human
Molecular note: A transgenic construct containing a 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), was injected into fertilized (C57BL/6 X CBA)F1 X C57BL/6 mouse eggs. Founder line 500 was subsequently established. Expression is approximately 30-fold higher than endogenous Rab9 protein in the liver.