Description

Strain Information

Former Names BALB/cByJ-Nna1pcd-3J    (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation +N8F1 (07-DEC-07)

Appearance
albino, ataxic
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Agtpbp1^pcd-3J/Agtpbp1^pcd-3J

albino, unaffected
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Agtpbp1^pcd-3J/+ or A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c ?/+

Description
Mice homozygous for the Purkinje cell degeneration 3 Jackson spontaneous mutation (pcd^3J) have an external and histological phenotype that is very similar to the original Purkinje cell degeneration mutation (pcd). Homozygous pcd mutant mice show a moderate ataxia beginning at 3 to 4 weeks, are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photoreceptor cells proceeds slowly to completeness over the course of a year.

Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Agtpbp1

000537	B6.BR-Agtpbp1pcd/J
001037	B6C3Fe a/a-Agtpbp1pcd/J
008292	BALB/cJ-Agtpbp1pcd-8J/J
005501	C(Cg)-Agtpbp1pcd-7J/J
005011	C57BL/6J-Agtpbp1pcd-6J/J
004518	DBA/2J-Agtpbp1pcd-5J/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-3J/Agtpbp1^pcd-3J

        involves: BALB/cByJ

• behavior/neurological phenotype
• ataxia (MGI Ref ID J:74929)
  • age of onset 3 - 4 weeks
• reproductive system phenotype
• abnormal male germ cell morphology (MGI Ref ID J:74929)
  • abnormally shaped sperm
• oligozoospermia (MGI Ref ID J:74929)
• asthenozoospermia (MGI Ref ID J:74929)
• male infertility (MGI Ref ID J:74929)
• vision/eye phenotype
• retinal photoreceptor degeneration (MGI Ref ID J:74929)
  • photoreceptor cell degeneration, age of onset, 18 - 25 days
  • complete degeneration over the course of 1 year
• nervous system phenotype
• Purkinje cell degeneration (MGI Ref ID J:74929)
• abnormal cerebellar granule layer (MGI Ref ID J:74929)
  • partial granule cell degeneration following Purkinje cell degeneration
• abnormal olfactory bulb morphology (MGI Ref ID J:74929)
  • mitral cells of olfactory bulb degenerate slowly and progressivley
• abnormal thalamus morphology (MGI Ref ID J:74929)
  • thalamic neuronal degeneration, age of onset 50 - 60 days
• retinal photoreceptor degeneration (MGI Ref ID J:74929)
  • photoreceptor cell degeneration, age of onset, 18 - 25 days
  • complete degeneration over the course of 1 year

View Research Applications

Research Applications

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

Agtpbp1^pcd-3J related

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

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information

Allele Symbol		Agtpbp1pcd-3J
Allele Name		Purkinje cell degeneration 3 Jackson
Allele Type		Spontaneous
Strain of Origin		BALB/cByJ
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;
Molecular Note		This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and sizeusing probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8. [MGI Ref ID J:74929]

Genotyping

Genotyping Information

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

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768]  [MGI Ref ID J:75095]

Fernandez-Gonzalez A; La Spada AR; Treadaway J; Higdon JC; Harris BS; Sidman RL; Morgan JI; Zuo J. 2002. Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science 295(5561):1904-6. [PubMed: 11884758]  [MGI Ref ID J:74929]

Harris A; Morgan JI; Pecot M; Soumare A; Osborne A; Soares HD. 2000. Regenerating motor neurons express Nna1, a novel ATP/GTP-binding protein related to zinc carboxypeptidases. Mol Cell Neurosci 16(5):578-96. [PubMed: 11083920]  [MGI Ref ID J:74936]

Mullen RJ; Eicher EM; Sidman RL. 1976. Purkinje cell degeneration, a new neurological mutation in the mouse. Proc Natl Acad Sci U S A 73(1):208-12. [PubMed: 1061118]  [MGI Ref ID J:5613]

O'Gorman S. 1985. Degeneration of thalamic neurons in Purkinje cell degeneration mutant mice. II. Cytology of neuron loss. J Comp Neurol 234(3):298-316. [PubMed: 3988986]  [MGI Ref ID J:7820]

Agtpbp1^pcd-3J related

Fernandez-Gonzalez A; La Spada AR; Treadaway J; Higdon JC; Harris BS; Sidman RL; Morgan JI; Zuo J. 2002. Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science 295(5561):1904-6. [PubMed: 11884758]  [MGI Ref ID J:74929]

Harris BS. 1998. The Jackson Laboratory Mouse Mutant Resource 1998 Mutation Reports MGI Direct Data Submission :.  [MGI Ref ID J:50994]

Rong Y; Wang T; Morgan JI. 2004. Identification of candidate Purkinje cell-specific markers by gene expression profiling in wild-type and pcd(3J) mice. Brain Res Mol Brain Res 132(2):128-45. [PubMed: 15582153]  [MGI Ref ID J:94657]

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]

Wang T; Parris J; Li L; Morgan JI. 2006. The carboxypeptidase-like substrate-binding site in Nna1 is essential for the rescue of the Purkinje cell degeneration (pcd) phenotype. Mol Cell Neurosci 33(2):200-13. [PubMed: 16952463]  [MGI Ref ID J:116593]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. 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
	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.

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.

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