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Fig4plt1
Spontaneous Allele Detail
Nomenclature
Symbol: Fig4plt1
Name: FIG4 phosphoinositide 5-phosphatase; pale tremor
MGI ID: MGI:3716838
Synonyms: Fig4paletremor, plt
Gene: Fig4  Location: Chr10:41188172-41303241 bp, - strand  Genetic Position: Chr10, 22.08 cM
Presence of vacuoles in the atria of E18.5 Fig4plt1/Fig4plt1 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 detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 19 anatomical structures
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:  29 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:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory