Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses

American Journal of Veterinary Research

Volumn 62, Issue 1, 2001, Pages 97-103

  Santschi, Elizabeth M ^a,b   Vrotsos, Paul D ^a,c   Purdy, Amanda K ^a,d   Mickelson, James R ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c Peterson and Smith Equine Hospital   (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALIA; EQUIDAE; LOESELIASTRUM;

ENDOTHELIN B RECEPTOR; ENDOTHELIN RECEPTOR; ISOLEUCINE; LYSINE;

AMINO ACID SUBSTITUTION; ANIMAL; ANIMAL DISEASE; ARTICLE; FEMALE; FETUS DEATH; GENETICS; HAIR COLOR; HETEROZYGOTE DETECTION; HOMOZYGOTE; HORSE; HORSE DISEASE; LETHAL GENE; MUTATION; PREGNANCY; PRENATAL DEVELOPMENT; SYNDROME;

AMINO ACID SUBSTITUTION; ANIMALS; FEMALE; FETAL DEATH; GENES, LETHAL; HAIR COLOR; HETEROZYGOTE DETECTION; HOMOZYGOTE; HORSE DISEASES; HORSES; ISOLEUCINE; LYSINE; MUTATION; PREGNANCY; RECEPTOR, ENDOTHELIN B; RECEPTORS, ENDOTHELIN; SYNDROME;

EID: 0035235910     PISSN: 00029645     EISSN: None     Source Type: Journal    
DOI: 10.2460/ajvr.2001.62.97     Document Type: Article

References (15)

1. American Paint Horse Association official rule book. 33rd ed. Fort Worth, Tex: American Paint Horse Association, 1998;232-233.
2. Barsh GS. The genetics of pigmentation: from fancy genes to complex traits. Trends Genet 1996;12:299-305.
3. Jackson IJ. Molecular and developmental genetics of mouse coat color. Annu Rev Genet 1994;28:189-217.
4. Pavan WJ, Mac S, Cheng M, et al. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res 1995;5:29-41.
5. Sponenberg DP Patterns of white. In: Equine color genetics. Ames, Iowa: Iowa State University Press, 1996;53-82.
6. Trommershausen-Smith A. Lethal white foals in matings of overo spotted horses. Theriogenology 1977;8:303-311.
7. Hultgren BD. Ileocolonic aganglionosis in white progeny of overo spotted horses. J Am Vet Med Assoc 1982;180:289-292.
8. Hosoda K, Hammer RE, Richardson JA, et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 1994;79:1267-1276.
9. Gariepy CE, Cass DT, Yanagisawa M. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci 1996;93:867-872.
10. Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-1266.
11. Baynash AG, Hosoda K, Giaid A, et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 1994;70:1277-1285.
12. Santschi EM, Purdy AK, Valberg SJ, et al. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome 1998;9:306-309.
13. Metallinos DL, Bowling AT, Rine J. A missense mutation in the Endothelin-B receptor gene is associated with lethal white foal syndrome: an equine version of Hirschprung disease. Mamm Genome 1998;9:426-431.
14. Yang GC, Croaker D, Zhang AL, et al. A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Hum Mol Genet 1998;7:1047-1052.
15. McCabe L, Griffin LD, Kinzer A, et al. Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschprung disease) Am J Med Genet 1990;36:336-340.