Fig4^plt1
Spontaneous Allele Detail

Summary

• Symbol: Fig4^plt1
• Name: FIG4 phosphoinositide 5-phosphatase; pale tremor
• MGI ID: MGI:3716838
• Synonyms: Fig4^-, Fig4^paletremor, plt
• Gene: Fig4 Location: Chr10:41064168-41179237 bp, - strand Genetic Position: Chr10, 22.08 cM
• Alliance: Fig4^plt1 page

Presence of vacuoles in the atria of E18.5 Fig4^plt1/Fig4^plt1 mutants

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: mixed

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: 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. (J:122737)

Disease models

Expression

In Structures Affected by this Mutation:

16 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Fig4 Mutation: 51 strains or lines available

References

• Original: J:122737 Chow CY, et al., Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72
• All: 19 reference(s)