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 COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

PloS one - 1 Jan 2013

Frischknecht Mirjam, Niehof-Oellers Helena, Jagannathan Vidhya, Owczarek-Lipska Marta, Drögemüller Cord, Dietschi Elisabeth, Dolf Gaudenz, Tellhelm Bernd, Lang Johann, Tiira Katriina, Lohi Hannes, Leeb Tosso

Abstract excerpt

We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Collagen Type XI

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

Share to Dog Diseases

Share to Dwarfism

Share to Genes, Recessive

Share to Lymphotoxin-alpha

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 23527306
DOI: 10.1371/journal.pone.0060149
PMCID: PMC3603880

Genes

LTA

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.PMID 23527306Read ↗

Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10Semantic proximity Read ↗

Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in Labrador Retrievers.Semantic proximity Read ↗

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism.Semantic proximity Read ↗

A Nonsense Mutation in the PRKG2 Gene in Dalmatian Dogs with ChondrodysplasiaSemantic proximity Read ↗

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VIISemantic proximity Read ↗

Bone disorders in the dog: a review of modern genetic strategies to find the underlying causes.Semantic proximity Read ↗

Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.Semantic proximity Read ↗

<i>FGF4</i> retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogsSemantic proximity Read ↗

Complex disease and phenotype mapping in the domestic dog.Semantic proximity Read ↗

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.Semantic proximity Read ↗

Comparison of village dog and wolf genomes highlights the pivotal role of the neural crest in dog domesticationSemantic proximity Read ↗

Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia.Semantic proximity Read ↗

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