RGD Reference Report - Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. - Rat Genome Database

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Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.

Authors: Gariepy, CE  Cass, DT  Yanagisawa, M 
Citation: Gariepy CE, etal., Proc Natl Acad Sci U S A 1996 Jan 23;93(2):867-72.
RGD ID: 628515
Pubmed: PMID:8570650   (View Abstract at PubMed)
PMCID: PMC40149   (View Article at PubMed Central)

Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans. Here we report a naturally occurring null mutation of the EDNRB gene in spotting lethal (sl) rats, which exhibit aganglionic megacolon associated with white coat color. We found a 301-bp deletion spanning the exon 1-intron 1 junction of the EDNRB gene in sl rats. A restriction fragment length polymorphism caused by this deletion perfectly cosegregates with the sl phenotype. The deletion leads to production of an aberrantly spliced EDNRB mRNA that lacks the coding sequence for the first and second putative transmembrane domains of the G-protein-coupled receptor. Radioligand binding assays revealed undetectable levels of functional EDNRB in tissues from homozygous sl/sl rats. We conclude that EDNRB plays an essential role in the normal development of two neural crest-derived cell lineages, epidermal melanocytes and enteric neurons, in three mammalian species--humans, mice, and rats. The EDNRB-deficient rat may also prove valuable in defining the postnatal physiologic role of this receptor.



Disease Annotations    
megacolon  (IAGP,ISO)
Perinatal Death  (IAGP,ISO)

Gene Ontology Annotations    

Biological Process
pigmentation  (IMP)

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Ednrb  (endothelin receptor type B)
Ednrbsl  (endothelin receptor type B, spotting lethal)

Genes (Mus musculus)
Ednrb  (endothelin receptor type B)

Genes (Homo sapiens)
EDNRB  (endothelin receptor type B)

Strains
Sl  (NA)

Objects referenced in this article
Gene Edn1 endothelin 1 Rattus norvegicus
Gene Ednra endothelin receptor type A Rattus norvegicus

Additional Information