OMIA:002022-9913 : Arthrogryposis multiplex congenita, CHRNB1-related in Bos taurus (taurine cattle)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616314 (trait) , 616313 (trait) , 100710 (gene)

Links to relevant human diseases in MONDO:

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 Dane (Cattle) (VBO_0000353).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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 (27121908..27132655) CHRNB1 Homologene, Ensembl , NCBI gene

Variants

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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 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*) rs5334474854 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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002022-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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