Mucolipin 3 (MCOLN3)

Deafness in spontaneously occurring mouse mutants is often associated with defects in cochlear sensory hair cells, opening an avenue to systematically identify genes critical for hair cell structure and function. The classic semidominant mouse mutant varitint-waddler (Va) exhibits early-onset hearing loss, vestibular defects, pigment abnormalities, and perinatal lethality. A second allele, designated Va(J) because it arose at the Jackson Laboratory, shows a less severe phenotype. Mcoln3 encodes a putative 6-transmembrane domain protein with sequence and motif similarities to the family of nonselective transient receptor potential ion channels.Hair cell defects were apparent by embryonic day 17.5 in Va mice, assigning Mcoln3 an essential role during early hair cell maturation.