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Flgft
Spontaneous Allele Detail
Nomenclature
Symbol: Flgft
Name: filaggrin; flaky tail
MGI ID: MGI:1856880
Synonyms: FlgdelAPfal, ft/ma
Gene: Flg  Location: Chr3:93273546-93293689 bp, + strand  Genetic Position: Chr3, 40.16 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA single nucleotide deletion at position 5303 in exon 3 (5303delA) results in a frameshift mutation and premature truncation of the predicted protein product. The copy number of the filaggrin repeat contained within this gene vary depending on the background strain. While this mutant occurs in an allele with 16 copies of the filaggrin repeat, the wild-type C57BL/6 allele contains 17 copies of the repeat. This indicates that the ft mutation arose on a C3H allele. Excluding the repeat copy number variation, this allele is 99.3% identical to the C57BL/6 wild-type allele. Reduced expression of the truncated protein was confirmed by western blot analysis on mouse skin extracts. (J:151110)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Flg Mutation:  19 strains or lines available
References
Original:  J:64247 Lane PW, et al., ft - flaky tail. Mouse News Lett. 1962;27:38
All:  19 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
11/07/2017
MGI 6.11
The Jackson Laboratory