Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Pflugers Archiv : European journal of physiology - 1 Nov 2008

Cuajungco Math P, Samie Mohammad A

Abstract excerpt

The transient receptor potential mucolipins (TRPMLs) are the most recently discovered subfamily of TRP ion channel proteins. Positional cloning approach has identified two mutations in the TRPML3 (Mcoln3) gene that cause the varitint-waddler mouse phenotypes. Short for variable tint (diluted coat color), the varitint-waddler consists two phenotypes Va and Va ( J ). The mutation associated with the Va phenotype is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hair Color
Share to Hearing
Share to Hearing Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Isoleucine

Share to Skin Pigmentation

Share to Threonine

Share to Transient Receptor Potential Channels

Share to TRPM Cation Channels

Source

Identifiers

PMID: 18504603
DOI: 10.1007/s00424-008-0523-4

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.PMID 18504603Read ↗

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

TRPML3 and hearing loss in the varitint-waddler mouse.Semantic proximity Read ↗

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

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

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

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

Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.Semantic proximity Read ↗

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.Semantic proximity Read ↗

The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.