Lhfpl5^hscy

This spontaneous mutation arose at The Jackson Laboratory. The mutation is a G-to-T transversion in exon 2 that results in a nonconservative amino acid change from cysteine to phenylalanine at amino acid position 161 of the encoded protein (p.C161F). Northern blot analysis demonstrated that a normal sized transcript was expressed from this mutant allele. Histological immunofluorescence analysis confirmed the absence of protein expression in newborn homozygous mice that is normally found in the inner and outer hair cells of the inner ear. (J:98396)