Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

doi:10.1126/science.8191288

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

Back to search

Article

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

Science (New York, N.Y.) - 27 May 1994

Moyer J H, Lee-Tischler M J, Kwon H Y, Schrick J J, Avner E D, Sweeney W E, Godfrey V L, Cacheiro N L, Wilkinson J E, Woychik R P

Abstract excerpt

A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic...

Topics

Amino Acid Sequence
Animals
Caenorhabditis elegans Proteins
Crosses, Genetic
Female
Homozygote
Kidney Tubules
Liver
Male
Mice
Mice, Inbred C3H

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice, Transgenic

Molecular Sequence Data

Mutagenesis, Insertional

Nerve Tissue Proteins

Phenotype

Polycystic Kidney, Autosomal Recessive

Proteins

Source

Open in PubMed

Identifiers

PMID: 8191288
DOI: 10.1126/science.8191288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8191288-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.PMID 8191288Read ↗

Molecular genetics of polycystic kidney disease.Semantic proximity Read ↗

Autosomal dominant polycystic kidney disease: clues to pathogenesis.Semantic proximity Read ↗

Molecular basis of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats.Semantic proximity Read ↗

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.Semantic proximity Read ↗

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1.Semantic proximity Read ↗

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.Semantic proximity Read ↗

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.Semantic proximity Read ↗

New insights into polycystic kidney disease and its treatment.Semantic proximity Read ↗

Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes.Semantic proximity Read ↗

Current advances in molecular genetics of autosomal-dominant polycystic kidney disease.Semantic proximity Read ↗

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomesSemantic proximity Read ↗

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