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.

Genetic overview

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

Pla2g6^m1J

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 Pla2g6^m1J 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 Pla2g6^m1J 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: 22442204 MGI: J:183152

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Genetics

Pla2g6^m1J

Allele Symbol: Pla2g6^m1J

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: Pla2g6^m1J 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: Pla2g6^m1J/Pla2g6^m1J
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

tremors
- the first outward sign of disease is a slight tremor at approximately 50 days of age

growth/size/body region phenotype

weight loss
- Gradual weight loss begins at approximately 90 days of age and continues until premature death

mortality/aging

premature death
- homozygotes rarely survive beyond 6 month and there is only 50% survival at approximately 120 days

nervous system phenotype

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

neurodegeneration

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: 22442204 MGI: J:183152

Additional - Pla2g6^m1J 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-Pla2g6^m1J/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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International

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Price

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Cryorecovery - Pricing

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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. 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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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Pla2g6m1J

Allele Symbol: Pla2g6m1J

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).

Research Areas By Phenotype

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

Genotype: Pla2g6m1J related

Mammalian Phenotype Terms by Genotype

Genotype: Pla2g6m1J/Pla2g6m1JC3H/HeJ-Pla2g6

behavior/neurological phenotype

growth/size/body region phenotype

mortality/aging

nervous system phenotype

References

Additional - Pla2g6m1J related

Genotyping Protocols

Mating System

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Pla2g6^m1J

Allele Symbol: Pla2g6^m1J

Genotype: Pla2g6^m1J related

Genotype: Pla2g6^m1J/Pla2g6^m1J
C3H/HeJ-Pla2g6

Additional - Pla2g6^m1J related