The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene and is associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Homozygous mice exhibit neuronal degeneration, juvenile lethality and diluted pigmentation.
Miriam Meisler, University of Michigan
The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene. FIG4, a lipid phosphatase homolog of the yeast SAC (suppressor of actin), catalyzes removal of a phosphate from PI(3.5)P2, a membrane-bound phospholipid involved in the trafficking and fusion of intracellular vesicles. Mutations in human FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Initially identified by tremors, an abnormal gait, which progresses to a loss of mobility, small size, juvenile lethality and diluted pigmentation, homozygous mice are characterized by spongiform degeneration of the brain and loss of neurons from peripheral ganglia. Neuron loss and accumulation of cytoplasmic vacuoles is observed in layers 4 and 5 of the cortex, deep cerebellar nuclei, and dorsal root ganglia. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3HeB/FeJ background homozygotes survive to two weeks; on a mixed C57BL/6 and C3HeB/FeJ background, homozygotes survive 4-6 weeks. These mice may be useful in studies of Charcot-Marie-Tooth disease type 4J.
The pale tremor plt mutation arose spontaneously on a mixed strain background that included C57BL/6J, C3H, 129P2/Ola and SJL in the laboratory of Dr. Miriam Meisler at the University of Michigan. Mice carrying the mutation have been crossed for at least 17 generations to C3HeB/FeJ. Pale tremor is a 5.5 kB ETn2b retrotransposon insertion in the FIG4 homolog Fig4 gene. The retrotransposon is inserted 384 bp upstream of exon 19 and results in abnormal splicing from exon 18. Low levels of transcript cannot be detected by Northern blot, but can be detected by RT-PCR. Functionally, plt is a null mutation. Upon arrival, transgenic mice were bred to C3HeB/FeJ inbred mice (Stock No. 000658) for at least one generation to establish the colony.
|Allele Name||pale tremor|
|Allele Synonym(s)||Fig4paletremor; plt|
|Gene Symbol and Name||Fig4, FIG4 phosphoinositide 5-phosphatase|
|Gene Synonym(s)||A530089I17Rik; A530089I17Rik; AI326867; ALS11; BTOP; CMT4J; KIAA0274; Kiaa0274; RGD1311375; RIKEN cDNA A530089I17 gene; SAC3; Sac3; YVS; dJ249I4.1; expressed sequence AI326867|
|Strain of Origin||mixed|
|Molecular Note||The mouse retrotransposon ETn2Beta was inserted 384 bp upstream of exon 19 in the same orientation as the gene and was flanked by a duplication of the hexanucleotide CCCCTG. Northern blot did not detect transcript from mutants using a cDNA probe containing exons 8-15.|
|Mutations Made By|| |
Miriam Meisler, University of Michigan
While maintaining a live colony, these mice are bred as heterozygotes. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3H background homozygotes survive to two weeks; on a mixed background, homozygotes survive 4-6 weeks.
When using the C3Fe.Cg-Fig4plt1/MmJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #017801 in your Materials and Methods section.
|Heterozygous for wildtype for Fig4<plt1>|
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