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.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
N5
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pla2g6 | phospholipase A2, group VI |
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.
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.
Allele Name | mutation 1, Jackson |
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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. |
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.
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