Overview

Also Known As:Purkinje cell degeneration

These mice carry a spontaneous mutation at the Agtpbp1 locus characterized by a moderate ataxia and degeneration of Purkinje cells, retinal photoreceptor cells, and olfactory bulb mitral cells.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Allele Type	Gene Symbol	Gene Name
Spontaneous (Not Specified)	Agtpbp1	ATP/GTP binding protein 1

Research Applications

Neurobiology Research
Sensorineural Research

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Base Price

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the Purkinje cell degeneration spontaneous mutation (pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice 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 Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Agtpbp1^pcd

Allele Symbol: Agtpbp1^pcd

Allele Name	Purkinje cell degeneration
Allele Type	Spontaneous (Not Specified)
Allele Synonym(s)	Nna1^pcd; pcd; pcd^1J
Gene Symbol and Name	Agtpbp1, ATP/GTP binding protein 1
Gene Synonym(s)
Strain of Origin	C57BR/cdJ
Chromosome	13
Molecular Note	No overt mutations were noted in the coding region for this allele. Northern analysis failed to detect transcript in all tissues except for testis, where reduced levels were noted. Authors note that the mutation is likely in a regulatory region of the gene.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

retinitis pigmentosa

Research Areas By Phenotype

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

Genotype: Agtpbp1^pcd related

Neurobiology Research
- Ataxia (Movement) Defects
- Neurodegeneration
- Cerebellar Defects
  - Purkinje cell defect
Sensorineural Research
- Retinal Degeneration

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
B6.BR-Agtpbp1/J

nervous system phenotype

retinal photoreceptor degeneration
- photoreceptor connecting cilia 36 % shorter at age P30
- Normal - normal tubulin glutamylation in microtubles of photoreceptor connecting cilia at age P19
- progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age P30
- Normal - normal photoreceptor connecting cilia length at age P19

abnormal photoreceptor connecting cilium morphology
- cilia 36 % shorter at age P30
- progressive tubulin hyperglutamylation in cilium microtubles from age P30
- Normal - normal cilia length at age P19
- Normal - normal tubulin glutamylation in cilium microtubles at age P19

vision/eye phenotype

abnormal photoreceptor connecting cilium morphology
- Normal - normal cilia length at age P19
- Normal - normal tubulin glutamylation in cilium microtubles at age P19
- progressive tubulin hyperglutamylation in cilium microtubles from age P30
- cilia 36 % shorter at age P30

retinal photoreceptor degeneration
- Normal - normal tubulin glutamylation in microtubles of photoreceptor connecting cilia at age P19
- photoreceptor connecting cilia 36 % shorter at age P30
- Normal - normal photoreceptor connecting cilia length at age P19
- progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age P30

cellular phenotype

abnormal photoreceptor connecting cilium morphology
- Normal - normal cilia length at age P19
- progressive tubulin hyperglutamylation in cilium microtubles from age P30
- cilia 36 % shorter at age P30
- Normal - normal tubulin glutamylation in cilium microtubles at age P19

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BL/6J * C57BR/cdJ * DBA/2J

nervous system phenotype

retinal photoreceptor degeneration
- progressive loss of photoreceptor rows is evident by P90, however the outer nuclear layer is not completely lost and at P270, 2-3 rows of photoreceptor cells are retained

abnormal retinal rod cell morphology
- rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270

decreased amacrine cell number
- reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points

vision/eye phenotype

abnormal eye electrophysiology
- magnitude of age-related ERG amplitude reduction is more pronounced in mutants than in wild-type mice, especially at later ages
- oscillatory potential amplitudes in response to a light flash are different from wild-type
- ERG amplitudes evoked by high intensity stimuli presented to the dark-adapted eye are smaller than in wild-type at all ages tested for the a-wave and at all ages except P45 for the b-wave

abnormal cone electrophysiology
- Normal - however, no differences from wild-type in cone flicker ERGs are seen
- amplitudes of the cone ERG b-wave is decreased in mutants at P90 and older

thin retinal outer nuclear layer
- progressive reduction in thickness due to photoreceptor death

decreased amacrine cell number
- reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points

abnormal retinal rod cell morphology
- rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270

abnormal rod electrophysiology
- amplitude of the rod b-wave is reduced in mutants for all postnatal days measured after P90

abnormal retinal inner plexiform layer morphology
- smaller terminal end-bulbs and varicosities in the sublamine 5 of the inner plexiform layer are seen from P90
- end-bulbs of axonal terminals are disorganized and smaller

retinal photoreceptor degeneration
- progressive loss of photoreceptor rows is evident by P90, however the outer nuclear layer is not completely lost and at P270, 2-3 rows of photoreceptor cells are retained

abnormal retinal outer nuclear layer morphology
- in the oldest mutants (P180 and P270) some horizontal cell somas are abnormally located in the outer nuclear layer

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BR/cdJ * CBA

behavior/neurological phenotype

ataxia
- age of onset, 3 - 4 weeks

reproductive system phenotype

male infertility

abnormal male germ cell morphology
- of the few sperm found, these were degenerated

oligozoospermia

reduced female fertility
- females were poor breeders

asthenozoospermia

cellular phenotype

abnormal male germ cell morphology
- of the few sperm found, these were degenerated

oligozoospermia

asthenozoospermia

vision/eye phenotype

retinal photoreceptor degeneration
- photoreceptor cell degeneration, age of onset, 18 - 25 days
- complete over the course of 1 year

nervous system phenotype

abnormal cerebellar Purkinje cell layer
- symmetrical regions of more resistant cells but most disappear eventually
- climbing fibers never contact Purkinje cells

Purkinje cell degeneration
- age of onset, 15 - 18 days

abnormal olfactory bulb morphology
- olfactory mitral cell degeneration, slow and progressive

decreased Purkinje cell number
- about 1% of initial population remains at 2 months of age
- cell loss begins at 3 weeks of age and progresses rapidly

retinal photoreceptor degeneration
- complete over the course of 1 year
- photoreceptor cell degeneration, age of onset, 18 - 25 days

abnormal cerebellar granule layer morphology
- granule cell degeneration, partial loss following Purkinje cell degeneration

abnormal thalamus morphology
- thalamic neuronal degeneration, age of onset 50 - 60 days

abnormal Purkinje cell dendrite morphology
- atrophic dendritic trees

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BR/cdJ

nervous system phenotype

decreased Purkinje cell number
- few Purkinje cell

abnormal cochlear VIII nucleus morphology
- few cartwheel cells in the dorsal cochlear nucleus

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):517-25PubMed: 11853768 MGI: 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):1904-6PubMed: 11884758 MGI: 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):578-96PubMed: 11083920 MGI: 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):208-12PubMed: 1061118 MGI: 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):298-316PubMed: 3988986 MGI: J:7820
Rotter A; Rath S; Evans JE; Frostholm A. 2000. Modulation of GABA(A) receptor subunit mRNA levels in olivocerebellar neurons of purkinje cell degeneration and weaver mutant mice. J Neurochem 74(5):2190-200PubMed: 10800965 MGI: J:61537

Additional - a related

Additional - Agtpbp1^pcd related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black, ataxic
  Related Genotype: a/a Agtpbp1^pcd/Agtpbp1^pcd
  
  black, unaffected
  Related Genotype: a/a Agtpbp1^pcd/+ or a/a ?/+
Citation
When using the Purkinje cell degeneration mouse strain in a publication, please cite the originating article(s) and include JAX stock #001037 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Progeny testing required but not provided. No genotyping assay is available for these recessive cryo-recovered animals of undefined genotype

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Licensing Information

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Email: TechTran@jax.org

Also Known As:Purkinje cell degeneration

Genetic overview

Research Applications

Base Price

Detailed Description

Control Suggestions

Additional Information

a

Allele Symbol: a

Agtpbp1pcd

Allele Symbol: Agtpbp1pcd

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Agtpbp1pcd related

Mammalian Phenotype Terms by Genotype

Genotype: Agtpbp1pcd/Agtpbp1pcdB6.BR-Agtpbp1/J

nervous system phenotype

vision/eye phenotype

cellular phenotype

Genotype: Agtpbp1pcd/Agtpbp1pcdinvolves: C57BL/6J * C57BR/cdJ * DBA/2J

nervous system phenotype

vision/eye phenotype

Genotype: Agtpbp1pcd/Agtpbp1pcdinvolves: C57BR/cdJ * CBA

behavior/neurological phenotype

reproductive system phenotype

cellular phenotype

vision/eye phenotype

nervous system phenotype

Genotype: Agtpbp1pcd/Agtpbp1pcdinvolves: C57BR/cdJ

nervous system phenotype

References

Additional References

Additional - a related

Additional - Agtpbp1pcd related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Agtpbp1^pcd

Allele Symbol: Agtpbp1^pcd

Genotype: Agtpbp1^pcd related

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
B6.BR-Agtpbp1/J

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BL/6J * C57BR/cdJ * DBA/2J

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BR/cdJ * CBA

Genotype: Agtpbp1^pcd/Agtpbp1^pcd
involves: C57BR/cdJ

Additional - Agtpbp1^pcd related