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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names B6C3Fe a/a-Pitpnvb/J (Changed: 14-MAR-05 ) B6C3Fe-a/a-Pitpnvb (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N14 Description
Mice homozygous for the vibrator spontaneous mutation (Pitpnvb) are recognizable at 10 to 12 days of age by a fine rapid tremor. This is followed by a degenerative phase in which there is progressive development of ascending motor paralysis and coarse cerebellar tremor, and finally a terminal phase in which there is loss of consciousness and death. Death occurs by 30 days of age in vibrator mutant mice on an inbred genetic background but many derived from outcrosses may live to 6 months. Mammary glands in homozygotes exhibit underdeveloped alveolar and ductal structures and the fat pad is composed predominantly of brown adipose tissue (Monaco et al., 2004). Neutral lipids are increased two to four fold in the livers of homozygotes (Monaco et al., 2004). The expression of phosphatidylinositol transfer protein alpha is decreased 65-85% compared to wildtype littermates (Monaco et al., 2004).Development
The vibrator mutation arose spontaneously in the DBA/2J strain.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
assigned by genotype
Pitpnavb/Pitpnavb
B6C3Fe
- life span-post-weaning/aging
- premature death (MGI Ref ID J:40754)
- mice do not survive past 42 days
- behavior/neurological phenotype
- tremors (MGI Ref ID J:40754)
- severe
- nervous system phenotype
- abnormal neuron morphology (MGI Ref ID J:40754)
- neuron defects include vacuolated or spongiform neurons, swollen neurons undergoing central chromatolysis, and fading neurons with poorly stained cytoplasm and nuclei
- neurons in the inner laminae of the spinal cord are abnormal
- chromatolysis (MGI Ref ID J:40754)
- some neurons are swollen and undergoing central chromatolysis
- nerves in the lateral cerebellar nucleus, lateral vestibular nucleus and the reticular formation undergo chromatolysis
- neuron degeneration (MGI Ref ID J:40754)
- neurons with degenerative properties are found in the brain stem, cerebellar roof nuclei, spinal cord and dorsal root ganglia
- nerves in the lateral cerebellar nucleus, lateral vestibular nucleus and the reticular formation undergo chromatolysis and degeneration
- abnormal spinal cord morphology (MGI Ref ID J:40754)
- neurons in the inner laminae are abnormal
This mouse can be used to support research in many areas including:Pitpnavb related
Neurobiology Research
Cerebellar Defects
Neurodegeneration
Tremor Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Pitpnavb | ||
|---|---|---|---|
| Allele Name | vibrator | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | vb; | ||
| Strain of Origin | DBA/2J | ||
| Gene Symbol and Name | Pitpna, phosphatidylinositol transfer protein, alpha | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | MGC99649; PI-TPalpha; PITPN; PITPalpha; Pitp alpha; Pitpn; VIB1A; phosphatidylinositol transfer protein; vb; vibrator; | ||
| General Note | Homozygotes are recognizable at 10 to 12 days of age by a fine rapid tremor. This is followed by a degenerative phase in which there is progressive development of ascending motor paralysis and coarse cerebellar tremor, and finally a terminal phase in which there is loss of consciousness and death. Selected neurons in spinal cord and later in brainstem and cerebellum show progressive degenerative changes featuring dilated cisternae of endoplasmic reticulum in cell bodies, dendrites, and axons, with eventual severe intracellular vacuolization and some cell death. Homozygotes with an inbred genetic background die by 30 days old, but many derived from outcrosses may live to 6 months (J:6896). | ||
| Molecular Note | A comparison of genomic sequences from mutant and wild-type mice showed this allele comprises an intracisternal A particle retroposon insertion in intron 4 at nucleotide 20,156. A P1 clone, 4232, of ~ 76 kb completely complemented the mutation. [MGI Ref ID J:40754] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Floyd JA; Gold DA; Concepcion D; Poon TH; Wang X; Keithley E; Chen D; Ward EJ; Chinn SB; Friedman RA; Yu HT; Moriwaki K; Shiroishi T; Hamilton BA. 2003. A natural allele of Nxf1 suppresses retrovirus insertional mutations. Nat Genet 35(3):221-8. [PubMed: 14517553] [MGI Ref ID J:86371]
Hamilton BA; Smith DJ; Mueller KL; Kerrebrock AW; Bronson RT ; van Berkel V ; Daly MJ ; Kruglyak L ; Reeve MP ; Nemhauser JL ; Hawkins TL ; Rubin EM ; Lander ES. 1997. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron 18(5):711-22. [PubMed: 9182797] [MGI Ref ID J:40754]
Weimar WR; Lane PW; Sidman RL. 1982. Vibrator (vb): a spinocerebellar system degeneration with autosomal recessive inheritance in mice. Brain Res 251(2):357-64. [PubMed: 7139332] [MGI Ref ID J:6896]
Pitpnavb relatedAlb JG Jr; Phillips SE; Wilfley LR; Philpot BD; Bankaitis VA. 2007. The pathologies associated with functional titration of phosphatidylinositol transfer protein alpha activity in mice. J Lipid Res 48(8):1857-72. [PubMed: 17525475] [MGI Ref ID J:123775]
Floyd JA; Gold DA; Concepcion D; Poon TH; Wang X; Keithley E; Chen D; Ward EJ; Chinn SB; Friedman RA; Yu HT; Moriwaki K; Shiroishi T; Hamilton BA. 2003. A natural allele of Nxf1 suppresses retrovirus insertional mutations. Nat Genet 35(3):221-8. [PubMed: 14517553] [MGI Ref ID J:86371]
Hamilton BA; Smith DJ; Mueller KL; Kerrebrock AW; Bronson RT ; van Berkel V ; Daly MJ ; Kruglyak L ; Reeve MP ; Nemhauser JL ; Hawkins TL ; Rubin EM ; Lander ES. 1997. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron 18(5):711-22. [PubMed: 9182797] [MGI Ref ID J:40754]
Lane PW. 1965. Vibrator (vb) Mouse News Lett 32:47. [MGI Ref ID J:24779]
Monaco ME; Kim J; Ruan W; Wieczorek R; Kleinberg DL; Walden PD. 2004. Lipid metabolism in phosphatidylinositol transfer protein alpha-deficient vibrator mice. Biochem Biophys Res Commun 317(2):444-50. [PubMed: 15063778] [MGI Ref ID J:89178]
Weimar WR; Lane PW; Sidman RL. 1982. Vibrator (vb): a spinocerebellar system degeneration with autosomal recessive inheritance in mice. Brain Res 251(2):357-64. [PubMed: 7139332] [MGI Ref ID J:6896]
Yingling J; Toyo-Oka K; Wynshaw-Boris A. 2003. Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. Am J Hum Genet 73(3):475-88. [PubMed: 12905154] [MGI Ref ID J:85444]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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See Terms of Use tab for General Terms and Conditions
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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.Ordering and Purchasing Information
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