|
|
| Nomenclature |
|
Symbol:
|
Fig4plt1
|
|
Name:
|
FIG4 homolog (S. cerevisiae);
pale tremor
|
|
MGI ID: |
MGI:3716838 |
|
Synonyms: |
Fig4paletremor, plt |
|
Gene:
|
Fig4
Location:
Chr10:41188172-41303241 bp, - strand
Genetic Position: Chr10,
22.08 cM
|
|
Mutation
origin |
|
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 for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
8 reference(s)
|
|
Analysis Tools
