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 BALB/cByJ-Nna1pcd-3J    (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 N8F7pN1 Generation Definitions

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.

Development
The Purkinje cell degeneration 3 Jackson mutation arose spontaneously on the inbred BALB/cByJ background at The Jackson Laboratory in 1996 and has been maintained on this background by breeding homozygous ovarian transplant hosts to BALB/cByJ males then intercrossing the obligate heterozygous offspring or by intercrossing progeny tested heterozgyous siblings. In 2008 this strain reached generation N9.

Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Agtpbp1^pcd-3J allele

005348

BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ

View Strains carrying   Agtpbp1^pcd-3J     (1 strain)

Strains carrying other alleles of Agtpbp1

000537	B6.BR-Agtpbp1pcd/J
001037	B6C3Fe a/a-Agtpbp1pcd/J
005011	C57BL/6J-Agtpbp1pcd-6J/J
004518	DBA/2J-Agtpbp1pcd-5J/GrsrJ

View Strains carrying other alleles of Agtpbp1     (4 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Agtpbp1^pcd-3J/Agtpbp1^pcd-3J

        involves: BALB/cByJ

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

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 provided by MGI

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; CCP1; 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

Genotyping Protocols

Agtpbp1^pcd-3J, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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

Berezniuk I; Sironi J; Callaway MB; Castro LM; Hirata IY; Ferro ES; Fricker LD. 2010. CCP1/Nna1 functions in protein turnover in mouse brain: Implications for cell death in Purkinje cell degeneration mice. FASEB J 24(6):1813-23. [PubMed: 20061535]  [MGI Ref ID J:162365]

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]

Ford GD; Ford BD; Steele EC Jr; Gates A; Hood D; Matthews MA; Mirza S; Macleish PR. 2008. Analysis of transcriptional profiles and functional clustering of global cerebellar gene expression in PCD3J mice. Biochem Biophys Res Commun 377(2):556-61. [PubMed: 18930027]  [MGI Ref ID J:143574]

Kalinina E; Biswas R; Berezniuk I; Hermoso A; Aviles FX; Fricker LD. 2007. A novel subfamily of mouse cytosolic carboxypeptidases. FASEB J 21(3):836-50. [PubMed: 17244818]  [MGI Ref ID J:168198]

Kim N; Xiao R; Choi H; Jo H; Kim JH; Uhm SJ; Park C. 2011. Abnormal sperm development in pcd(3J)-/- mice: the importance of Agtpbp1 in spermatogenesis. Mol Cells 31(1):39-48. [PubMed: 21110128]  [MGI Ref ID J:188766]

Li J; Gu X; Ma Y; Calicchio ML; Kong D; Teng YD; Yu L; Crain AM; Vartanian TK; Pasqualini R; Arap W; Libermann TA; Snyder EY; Sidman RL. 2010. Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-kappaB signaling. Neuron 68(1):45-60. [PubMed: 20920790]  [MGI Ref ID J:167756]

Rogowski K; van Dijk J; Magiera MM; Bosc C; Deloulme JC; Bosson A; Peris L; Gold ND; Lacroix B; Grau MB; Bec N; Larroque C; Desagher S; Holzer M; Andrieux A; Moutin MJ; Janke C. 2010. A family of protein-deglutamylating enzymes associated with neurodegeneration. Cell 143(4):564-78. [PubMed: 21074048]  [MGI Ref ID J:166837]

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]

Wu HY; Wang T; Li L; Correia K; Morgan JI. 2012. A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice. FASEB J 26(11):4468-80. [PubMed: 22835831]  [MGI Ref ID J:192499]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

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Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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