Overview

This strain is extinct, please refer to Stock No. 000110

Genetic overview

Genetic Background	Generation

Rabggta^gm

Allele Type	Gene Symbol	Gene Name
Spontaneous	Rabggta	Rab geranylgeranyl transferase, a subunit

View Genetics

Research Applications

Cell Biology Research
Dermatology Research
Hematological Research

View All Research Applications

Details

Development

The gunmetal mutation arose spontaneously in a C57BL/6J colony at The Jackson Laboratory in 1962 and was maintained by sibling intercrossing. Embryos were cryopreserved in 1980 using C57BL/6J females bred with homozygous males at generation F53. A cryorecovery of some of these embryos (stock #000110) was done for Dr. Luanne Peters to generate this strain.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Rabggta^gm

Allele Symbol: Rabggta^gm

Allele Name	gunmetal
Allele Type	Spontaneous
Allele Synonym(s)	gm
Gene Symbol and Name	Rabggta, Rab geranylgeranyl transferase, a subunit
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	14
Molecular Note	Mice carrying the gunmetal mutation have a G-to-A substitution in the splice site acceptor site at the 3' end of intron 1. It eliminates the exon 2 splice acceptor by changing it from CAG to CAA, leading to mis-splicing. RT-PCR of extracts from gunmetal mice yielded two transcripts, a dominant 429 base pair transcript that lacks exon 1 and is predicted not to encode functional protein, and the 638 base pair, intron alpha retaining transcript found in wildtype mice. RABGGTA protein and enzymatic activity are found in gunmetal mice, but both are reduced by 70% relative to wildtype siblings.

Disease/Phenotype

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Hermansky-Pudlak syndrome

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Rabggta^gm related

Cell Biology Research
- Vesicular Trafficking
Dermatology Research
- Color and White Spotting Defects
Hematological Research
- Clotting Defects
- Platelet Defects
  - platelet storage pool deficiency
  - thrombocytopenia

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Rabggta^gm/Rabggta^gm
C57BL/6J-Rabggta

cellular phenotype

abnormal megakaryocyte differentiation
- megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis

homeostasis/metabolism phenotype

decreased platelet serotonin level
- serotonin concentration is reduced to less than 50% of control values

increased bleeding time
- prolonged bleeding time

immune system phenotype

decreased cytotoxic T cell cytolysis
- in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
- reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A

integument phenotype

diluted coat color
- grayish black pigment dilution
- looks like Lyst^bg

mortality/aging

premature death
- homozygous mice have high mortality

nervous system phenotype

decreased platelet serotonin level
- serotonin concentration is reduced to less than 50% of control values

hematopoietic system phenotype

abnormal megakaryocyte differentiation
- megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis

abnormal platelet alpha-granule morphology
- plasma vWF levels are increased concomitant with the platelet vWF reduction
- platelet alpha granules show significant reductions in fibrinogen, platelet factor 4, and von Willebrand factor (vWF)

decreased cytotoxic T cell cytolysis
- in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
- reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A

decreased platelet dense granule number
- number of dense granules per platelet is reduced to ~50% of control values, as detected by whole mount electron microscopy

decreased platelet serotonin level
- serotonin concentration is reduced to less than 50% of control values

increased mean platelet volume
- 30% increase in mean platelet volume
- platelet size difference is maintained from 4 weeks to 6 months of age

thrombocytopenia
- platelet counts are ~50% of those in heterozygous controls

pigmentation phenotype

diluted coat color
- grayish black pigment dilution
- looks like Lyst^bg

reproductive system phenotype

reduced fertility
- homozygous mice do not breed well

Genotype: Rabggta^gm/Rabggta⁺
C57BL/6J-Rabggta

hematopoietic system phenotype

decreased cytotoxic T cell cytolysis
- target cell lysis is slightly less than normal, but this diminution is more severe in homozygotes

immune system phenotype

decreased cytotoxic T cell cytolysis
- target cell lysis is slightly less than normal, but this diminution is more severe in homozygotes

Genotype: Rabggta^gm/Rabggta^gm
C57BL/6J-Rabggta/J

mammalian phenotype

pigmentation phenotype
- Normal - mice exhibit wild-type iris pigmentation

References

Additional - Rabggta^gm related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

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Email: TechTran@jax.org

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Genetic overview

Research Applications

Development

Control Suggestions

Additional Information

Rabggtagm

Allele Symbol: Rabggtagm

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Rabggtagm related

Mammalian Phenotype Terms by Genotype

Genotype: Rabggtagm/RabggtagmC57BL/6J-Rabggta

cellular phenotype

homeostasis/metabolism phenotype

immune system phenotype

integument phenotype

mortality/aging

nervous system phenotype

hematopoietic system phenotype

pigmentation phenotype

reproductive system phenotype

Genotype: Rabggtagm/Rabggta+C57BL/6J-Rabggta

hematopoietic system phenotype

immune system phenotype

Genotype: Rabggtagm/RabggtagmC57BL/6J-Rabggta/J

mammalian phenotype

References

Additional - Rabggtagm related

Genotyping Protocols

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Rabggta^gm

Allele Symbol: Rabggta^gm

Genotype: Rabggta^gm related

Genotype: Rabggta^gm/Rabggta^gm
C57BL/6J-Rabggta

Genotype: Rabggta^gm/Rabggta⁺
C57BL/6J-Rabggta

Genotype: Rabggta^gm/Rabggta^gm
C57BL/6J-Rabggta/J

Additional - Rabggta^gm related