OMIA:002022-9913 : Arthrogryposis multiplex congenita, CHRNB1-related in Bos taurus (taurine cattle)
Categories: Muscle phene
Links to MONDO diseases:
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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Red Dane (Cattle) (VBO_0000353).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHRNB1||cholinergic receptor, nicotinic beta 1||Bos taurus||19||NC_037346.1 (27121908..27132655)||CHRNB1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|554||Red Dane (Cattle)||Arthrogryposis multiplex congenita, CHRNB1-related||CHRNB1||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||19||g.27122027del||c.55del||p.(A19Pfs47*)||Published as Chr19:27757270CG > C; CHRNB1 c.55delG; (p.Ala19Profs47*)||2016||27364156||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
Cite this entry
|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.|
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016