A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease

@article{Metallinos1998AMM,
  title={A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease},
  author={D L Metallinos and Ann T. Bowling and Jasper Rine},
  journal={Mammalian Genome},
  year={1998},
  volume={9},
  pages={426-431}
}
Abstract. Lethal White Foal Syndrome is a disease associated with horse breeds that register white coat spotting patterns. Breedings between particular spotted horses, generally described as frame overo, produce some foals that, in contrast to their parents, are all white or nearly all white and die shortly after birth of severe intestinal blockage. These foals have aganglionosis characterized by a lack of submucosal and myenteric ganglia from the distal small intestine to the large intestine… 
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References

SHOWING 1-10 OF 26 REFERENCES
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
TLDR
DNA samples from 17 probands of Italian origin with HSCR are analysed and two novel EDNRB mutations are identified, confirming the involvement ofEDNRB in HSCRs pathogenesis and demonstrating that EDNRBs mutations could contribute to HSCr disease in non-inbred populations.
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
TLDR
Observations indicate that dysfunction or loss of function of endothelin-B receptor may be involved in the aetiology of some isolated patients with HSCR.
Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.
TLDR
The discovery of the molecular defect underlying the sl rat phenotype should contribute to the understanding of the genetic heterogeneity of HSCR in man.
A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.
TLDR
The nucleotide sequences of the EDNRB genes of the sl/sl rats were determined and it was found that a 301-bp region intervening between direct repeat sequences was deleted in theEDNRB gene, and the deletion produces various transcripts due to aberrant splicing.
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
TLDR
Heterozygous EDNRB missense mutations are reported in isolated HSCR, giving further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons and suggesting that EDNRBs could be dosage sensitive.
Molecular characterization of four induced alleles at the Ednrb locus.
TLDR
To identify the important domains for EDNRB function, four recessive juvenile lethal alleles created by either radiation or chemical mutagens were examined at the molecular level and no molecular defect was detected in Ednrb1Chlc mice, suggesting that the mutation affects important regulatory elements that mediate the expression of the gene during development.
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease).
The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white,
Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding
TLDR
The Phe to Leu mutation in transmembrane domain IVS3 which courses the horse disease is described, the first application of molecular genetics to an important horse disease and the data will provide an opportunity for control or eradication of this condition.
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