Description

Strain Information

Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse H2 Haplotype d Generation F205+7N1 (21-MAR-04)

Appearance
dilute brown, ataxic
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d Agtpbp1^pcd-5J/Agtpbp1^pcd-5J

dilute brown, unaffected
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d Agtpbp1^pcd-5J/+

Development
The pcd-5J mutation of Agtpbp1 arose spontaneously in 2000 in the DBA/2J production colony at The Jackson Laboratory, which was then at generation F205. This strain has been maintained primarily via sibling breeding with some use of ovarian transplanted hosts as necessary. In 2003 males at generation F205+7 were used for cryopreservatioin of sperm and also for the generation of embryos for cryopreservation through in vitro fertilization with eggs from C57BL/6J females.

Control Information

	Control
	Heterozygote
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Agtpbp1

000537	B6.BR-Agtpbp1pcd/J
001037	B6C3Fe a/a-Agtpbp1pcd/J
003237	BALB/cByJ-Agtpbp1pcd-3J/J
008292	BALB/cJ-Agtpbp1pcd-8J/J
005501	C(Cg)-Agtpbp1pcd-7J/J
005011	C57BL/6J-Agtpbp1pcd-6J/J

View Strains carrying other alleles of Agtpbp1     (6 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Agtpbp1^pcd-5J/Agtpbp1^pcd-5J

        DBA/2J

• behavior/neurological phenotype
• ataxia (MGI Ref ID J:83266)
  • homozygotes exhibit a visibly detectable ataxic gait by weaning age
• nervous system phenotype
• Purkinje cell degeneration (MGI Ref ID J:83266)
  • detectable by histology

View Research Applications

Research Applications

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

Agtpbp1^pcd-5J related

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects (Purkinje cell defect)
Neurodegeneration

Genes & Alleles

Gene & Allele Information

Allele Symbol		Agtpbp1pcd-5J
Allele Name		Purkinje cell degeneration 5 Jackson
Allele Type		Spontaneous
Common Name(s)		Nna1pcd-5J; pcd5J;
Strain of Origin		DBA/2J
Gene Symbol and Name		Agtpbp1, ATP/GTP binding protein 1
Chromosome		13
Gene Common Name(s)		1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik; BB114605; DKFZp686M20191; KIAA1035; NNA1; Purkinje cell degeneration; RIKEN cDNA 1700020N17 gene; RIKEN cDNA 2310001G17 gene; RIKEN cDNA 2900054O13 gene; RIKEN cDNA 4930445M19 gene; RIKEN cDNA 5730402G09 gene; expressed sequence BB114605; nmf243; pcd;
General Note		This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1pcd-3J.
Molecular Note		A GAC was inserted at amino acid 775, adding an additional aspartic acid to the protein. Northern blot demonstrated comparable expression to that of wild-type mice. [MGI Ref ID J:105316]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Chakrabarti L; Neal JT; Miles M; Martinez RA; Smith AC; Sopher BL; La Spada AR. 2006. The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein. Mamm Genome 17(2):103-10. [PubMed: 16465590]  [MGI Ref ID J:105316]

Cook SA; Bronson RT; Gray SJ; Davisson MT. 2003. A new allele, pcd-5J, of the Agtpbp1 gene. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine (http://www.jax.org/mmr) MGI Direct Data Submission :.  [MGI Ref ID J:83266]

Original article from The Mouse Mutant Resource

Additional References

Agtpbp1^pcd-5J related

Wang T; Morgan JI. 2007. The Purkinje cell degeneration (pcd) mouse: an unexpected molecular link between neuronal degeneration and regeneration. Brain Res 1140:26-40. [PubMed: 16942761]  [MGI Ref ID J:120628]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	Homozygous males do not breed, but homozygous females sometimes do making the homozygote x heterozygote breeding scheme an option for colony maintenance.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote
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.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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.

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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.