Flg^ft
Spontaneous Allele Detail

Summary

• Symbol: Flg^ft
• Name: filaggrin; flaky tail
• MGI ID: MGI:1856880
• Synonyms: Flg^delAPfal, ft/ma
• Gene: Flg Location: Chr3:93180853-93200996 bp, + strand Genetic Position: Chr3, 40.16 cM
• Alliance: Flg^ft page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 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

Disease models

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

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: 42 strains or lines available

References

• Original: J:64247 Lane PW, et al., ft - flaky tail. Mouse News Lett. 1962;27:38
• All: 33 reference(s)