Fig4<plt1> Spontaneous Allele Detail MGI Mouse (MGI:3716838)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	52 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)

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