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Article

TRPML3 and hearing loss in the varitint-waddler mouse.

Biochimica et biophysica acta - 1 Aug 2007

Atiba-Davies Margaret, Noben-Trauth Konrad

Abstract excerpt

TRPML3 (also known as mucolipin-3, MCOLN3) belongs to the small family of TRPML ion channel proteins. The mammalian Trpml3 gene encodes a protein of 553 amino acids with short amino and carboxy termini and a transient receptor potential motif spanning from the third to the sixth trans membrane domain. Dominant mutant alleles of Trpml3 cause hearing loss, circling behaviour, pigmentation defects and embryonic...

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Source

Identifiers

PMID: 17329082
DOI: 10.1016/j.bbadis.2007.01.007

Genes

MCOLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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TRPML3 and hearing loss in the varitint-waddler mouse.PMID 17329082Read ↗

TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.Semantic proximity Read ↗

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.Semantic proximity Read ↗

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.Semantic proximity Read ↗

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.Semantic proximity Read ↗

Expression of transient receptor potential channel mucolipin (TRPML) and polycystine (TRPP) in the mouse inner ear.Semantic proximity Read ↗

Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.Semantic proximity Read ↗

The TRPML3 channel: from gene to function.Semantic proximity Read ↗

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.Semantic proximity Read ↗

Life and death of sensory hair cells expressing constitutively active TRPML3.Semantic proximity Read ↗

Pax3 deficiency diminishes melanocytes in the developing mouse cochleaSemantic proximity Read ↗

TRPML3.Semantic proximity Read ↗

Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear.Semantic proximity Read ↗

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