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.
Richard E. Pagano, Mayo Clinic College of Medicine
Genetic Background | Generation |
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Allele Type |
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Transgenic (Inserted expressed sequence, Humanized sequence) |
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.
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.
Expressed Gene | RAB9A, RAB9A, member RAS oncogene family, human |
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Site of Expression |
Allele Name | transgene insertion 500, Richard E Pagano |
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Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | Rab9TG; Rab9TG |
Gene Symbol and Name | Tg(CAG-RAB9A)500Repa, transgene insertion 500, Richard E Pagano |
Gene Synonym(s) | |
Promoter | ACTB, actin, beta, chicken |
Expressed Gene | RAB9A, RAB9A, member RAS oncogene family, human |
Strain of Origin | (C57BL/6 x CBA)F1 x C57BL/6 |
Chromosome | UN |
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. |
Mutations Made By | Richard Pagano, Mayo Clinic College of Medicine |
When maintaining a live colony, these mice can be bred as hemizygotes. The Donating Investigator has not attempted to make the strain homozygous.
When using the STOCK Tg(CAG-RAB9A)500Repa/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009678 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Hemizygous or Non Carrier for Tg(CAG-RAB9A)500Repa |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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