Sfn^Er

A single T insertion between base pairs 623 and 624 (cDNA from transcript ENSMUST00000057311.4) causes a frameshift mutation at amino acid residue 207 truncating the C-terminus of the protein (ADLHTLSEDSY TO ADLHTLQ[STOP]). This eliminates residues required for ligand interaction. Production of truncated protein was demonstrated immunologically. The hair-loss phenotype could be rescued using a Sfn containing transgene. (J:101891)