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B6.C3-Pla2g6m1J/CxRwb
Stock No: 019062
  • Congenic
  • Spontaneous Mutation
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  • Details
    • Detailed Description
    • Development
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    • Disease Terms
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    • Mammalian Phenotype Terms by Genotype
    • References
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Overview

This spontaneous mutation provides a model for infantile neuroaxonal dystrophy (INAD). Axonal spheroids are evident in the brain stem, spinal cord and peripheral axons of affected mice upon histological examination.

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Genetic overview

Genetic Background Generation
000664 C57BL/6J
N5
(2016-02-10 00:00:00)

Pla2g6m1J

Allele Type Gene Symbol Gene Name
Spontaneous Pla2g6 phospholipase A2, group VI
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Research Applications

  • Neurobiology Research
  • Cell Biology Research
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Base Price

Starting at:

$1.00 Domestic price for female
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Details

Detailed Description

This recessive mutant is a hypomorph, caused by a spontaneous IAP insertion in intron 1, that provides a model for infantile neuroaxonal dystrophy (INAD). Mice homozygous for the Pla2g6m1J mutation can often be distinguished by a slight tremor at approximately 13 weeks of age. A gradual weight loss also begins at that time and progresses until premature death. Loss of grip strength presents between 60 to 80 days of age and progresses such that by 100 days of age homozygotes can no longer hang suspended in the wire-hang test for more than a few seconds. The average age of death is approximately 120 days and few homozygotes survive beyond 6 months of age. Astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have aberrant ATP-stimulated calcium signaling. Capacitative calcium entry in these astroctyes was found to be only 45% that of wildtype controls. Axonal spheroids are evident in the brain stem, spinal cord and peripheral axons of affected mice upon histological examination.

Development

The Pla2g6m1J mutation arose spontaneously at The Jackson Laboratory in the C3H/HeJ inbred colony in 2000. This mutation was backcrossed once to C3H/HeJ in approximately 2001, three generations after it was identified, and was subsequently backcrossed at least 5 generations onto the C57BL/6J background in the laboratory of Dr. Greg Cox.

Control Suggestions

  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Selected References

  • Strokin M; Seburn KL; Cox GA; Martens KA; Reiser G. 2012. Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. Hum Mol Genet 21(12):2807-14PubMed: 22442204MGI: J:183152
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Genetics

Pla2g6m1J

Allele Symbol: Pla2g6m1J

Allele Name mutation 1, Jackson
Allele Type Spontaneous
Allele Synonym(s)
Gene Symbol and Name Pla2g6, phospholipase A2, group VI
Gene Synonym(s)
Strain of Origin C3H/HeJ
Chromosome 15
Molecular Note A viral insertion occurred spontaneously in intron 1 upstream of the start codon, resulting in a dramatic reduction of transcript levels.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

  • neurodegeneration with brain iron accumulation 2a

Research Areas By Phenotype

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

Genotype: Pla2g6m1J related

  • Neurobiology Research
    • Astrocyte Defects
    • Tremor Defects
    • Neuromuscular defects
    • Ataxia (Movement) Defects
    • Neurodegeneration
  • Cell Biology Research
    • Signal Transduction

Mammalian Phenotype Terms by Genotype

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

Genotype: Pla2g6m1J/Pla2g6m1J
C3H/HeJ-Pla2g6

behavior/neurological phenotype

  • decreased grip strength
    • grip strength, assessed by the ability to hang suspended on a wire, decreases by 60-80 days and by 100 days homozygotes can no longer suspend their weight for more than a few seconds
    • (MGI Ref ID J:183152)
  • tremors
    • the first outward sign of disease is a slight tremor at approximately 50 days of age
    • (MGI Ref ID J:183152)

growth/size/body region phenotype

  • weight loss
    • Gradual weight loss begins at approximately 90 days of age and continues until premature death
    • (MGI Ref ID J:183152)

mortality/aging

  • premature death
    • homozygotes rarely survive beyond 6 month and there is only 50% survival at approximately 120 days
    • (MGI Ref ID J:183152)

nervous system phenotype

  • neurodegeneration
      (MGI Ref ID J:183152)
  • abnormal astrocyte physiology
    • astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have diminished ATP-stimulated calcium signaling with capacitative calcium entry in these astrocytes found to be only 45% that of controls
    • (MGI Ref ID J:183152)

References

  • Strokin M; Seburn KL; Cox GA; Martens KA; Reiser G. 2012. Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. Hum Mol Genet 21(12):2807-14PubMed: 22442204MGI: J:183152

Additional - Pla2g6m1J related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Genotyping resources and troubleshooting
  • Mating System

    • Homozygote x Homozygote
    • Heterozygote x Homozygote
  • Citation

    When using the B6.C3-Pla2g6m1J/CxRwb mouse strain in a publication, please cite the originating article(s) and include JAX stock #019062 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

A6 (Intermediate)

Pricing & Availability

Availability Varies
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Live Mouse

Age Genotype Price
weeks

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Payment Terms and Conditions

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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