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

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

PloS one - 1 Jan 2011

Philipp Ute, Lupp Bettina, Mömke Stefanie, Stein Veronika, Tipold Andrea, Eule Johanna Corinna, Rehage Jürgen, Distl Ottmar

Abstract excerpt

A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome). This syndrome has been mapped to bovine chromosome (BTA) 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutation has been...

Read the complete abstract on PubMed

Topics

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

Share to Cattle Diseases
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Genes, Dominant

Share to Genome

Share to Germany

Share to Microphthalmia-Associated Transcription Factor

Share to Pigmentation

Source

Open in PubMed Open full text

Identifiers

PMID: 22174915
DOI: 10.1371/journal.pone.0028857
PMCID: PMC3236222

Genes

MITF
PAX3
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.PMID 22174915Read ↗

A de novo 2.3 kb structural variant in MITF explains a novel splashed white phenotype in a Thoroughbred family.Semantic proximity Read ↗

Identification of an FBN1 mutation in bovine Marfan syndrome-like disease.Semantic proximity Read ↗

A missense mutation in the FZD7 gene is associated with dilution of the red areas of the coat in Montbéliarde cattle.Semantic proximity Read ↗

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.Semantic proximity Read ↗

A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.Semantic proximity Read ↗

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.Semantic proximity Read ↗

White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.Semantic proximity Read ↗

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Semantic proximity Read ↗

An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.Semantic proximity Read ↗

Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses.Semantic proximity Read ↗

A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs.Semantic proximity Read ↗

Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.Semantic proximity Read ↗

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