OMIA 000161-9913 : Cardiomyopathy and woolly haircoat syndrome in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PPP1R13L protein phosphatase 1 regulatory subunit 13 like Bos taurus 18 NC_037345.1 (53021845..53005623) PPP1R13L Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Polled Hereford Cardiomyopathy and woolly haircoat syndrome PPP1R13L insertion, small (<=20) UMD3.1 18 g.53440861-53440867dupACAGGCG c.956-962dupACAGGCG p.Gly335GlufsX36 2009 19016676 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2009 Simpson, MA., Cook, RW., Solanki, P., Patton, MA., Dennis, JA., Crosby, AH. :
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet 40:42-6, 2009. Pubmed reference: 19016676. DOI: 10.1111/j.1365-2052.2008.01796.x.
1991 Storie, G.J., Gibson, J.A., Taylor, J.D. :
Cardiomyopathy and Woolly Haircoat Syndrome of Hereford Cattle Australian Veterinary Journal 68:119, 1991. Pubmed reference: 2043089.
1988 Whittington, RJ., Cook, RW. :
Cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle: electrocardiographic findings in affected and unaffected calves. Aust Vet J 65:341-4, 1988. Pubmed reference: 3214367.
1985 Morrow, C. J., Mcorist, S. :
Cardiomyopathy associated with a curly hair coat in Poll Hereford calves in Australia Australian Veterinary Journal 117:312-313, 1985.

Edit History


  • Created by Frank Nicholas on 30 Apr 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011