Flg^ft

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)