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Article

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

Human molecular genetics - 1 Nov 1995

Ceccherini I, Zhang A L, Matera I, Yang G, Devoto M, Romeo G, Cass D T

Abstract excerpt

The autosomal recessive spotting lethal (sl) rat phenotype is characterized by absence of intramural ganglion cells in the entire colon and distal small bowel, thus resembling the human Hirschsprung (HSCR) disease. A strategy for identifying the gene responsible for this rat defect was initiated by backcrossing DA x sl rats. After excluding linkage with two candidate genes, RET and Endothelin-3 (EDN3), a highly...

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Source

Identifiers

PMID: 8589685
DOI: 10.1093/hmg/4.11.2089

Genes

EDN3
EDNRB
RET

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.

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Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.PMID 8589685Read ↗

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A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.Semantic proximity Read ↗

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