OMIA 002022-9913 : Arthrogryposis multiplex congenita, CHRNB1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616314 , 616313

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Inheritance: Agerholm et al. (2016) provided pedigree evidence consistent with autosomal recessive inheritance.

Mapping: Agerholm et al. (2016): "a single genomic region of extended homozygosity of 21.5 Mb on chromosome 19"

Molecular basis: Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."

Breed: Red Danish.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CHRNB1 cholinergic receptor, nicotinic beta 1 Bos taurus 19 NC_037346.1 (27121898..27132200) CHRNB1 Homologene, Ensembl, NCBI gene

Variants

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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
Red Danish Arthrogryposis multiplex congenita, CHRNB1-related CHRNB1 deletion, small (<=20) c.55delG p.Ala19Profs47* 2016 27364156

Reference


2016 Agerholm, J.S., McEvoy, F.J., Menzi, F., Jagannathan, V., Drögemüller, C. :
A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. BMC Genomics 17:479, 2016. Pubmed reference: 27364156. DOI: 10.1186/s12864-016-2832-x.

Edit History


  • Created by Frank Nicholas on 04 Aug 2016
  • Changed by Frank Nicholas on 04 Aug 2016