OMIA:000685-9915 : Myasthenic syndrome, congenital, CHRNE-related in Bos indicus (indicine cattle (zebu))
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2002
Species-specific description: Information about congenital myasthenic syndrome in Brahman cattle was moved from OMIA:000685-9913 : Myasthenic syndrome, congenital, CHRNE-related in Bos taurus to this Bos indicus entry [08/10/2023]
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kraner et al. (2002) described that a 20-bp deletion within exon 5 (470del20) of the bovCHRNE gene, is the cause of a non-functional allele in Brahman calves. This mutation causes a frame shift, resulting in a premature stop codon in the predicted bovCHRNE protein. The non-functional allele reported by these authors explains the impairment of neuromuscular transmission in affected Brahman calves (Mohammad Shariflou 25/11/2006; FN 21 Sep 2012).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Brahman (Cattle) (VBO_0000159).
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|
|CHRNE||Bos indicus||19||NC_032668.1 (26859014..26863645)||CHRNE||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|
|490||Brahman (Cattle)||Myasthenic syndrome, congenital, CHRNE-related||CHRNE||470del20||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||19||g.26485848_26485867del||c.470_489del||Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised||2002||12481987||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
Cite this entry
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.
|2007||Thompson, P.N., van der Werf, J.H., Heesterbeek, J.A., van Arendonk, J.A. :|
|The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits. J Anim Sci 85:604-9, 2007. Pubmed reference: 17121978. DOI: 10.2527/jas.2006-379.|
|2003||Sieb, JP., Kraner, S., Thompson, PN., Steinlein, OK. :|
|Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene. Ann N Y Acad Sci 998:125-7, 2003. Pubmed reference: 14592869.|
|Thompson, P.N., Steinlein, O.K., Harper, C.K., Kraner, S., Sieb, J.P., Guthrie, A.J. :|
|Congenital myasthenic syndrome of Brahman cattle in South Africa. Vet Rec 153:779-81, 2003. Pubmed reference: 14735994.|
|2002||Kraner, S., Sieb, J.P., Thompson, P.N., Steinlein, O.K. :|
|Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation Neurogenetics 4:87-91, 2002. Pubmed reference: 12481987.|
|1998||Thompson, P.N. :|
|Suspected congenital myasthenia gravis in Brahman calves. Veterinary Record 143:526-529, 1998. Pubmed reference: 9839364.|
|1985||Takai, T., Noda, M., Mishina, M., Shimizu, S., Furutani, Y., Kayano, T., Ikeda, T., Kubo, T., Takahashi, H., Takahashi, T. :|
|Cloning, sequencing and expression of cDNA for a novel subunit of acetylcholine receptor from calf muscle. Nature 315:761-4, 1985. Pubmed reference: 3839289.|
- Created by Imke Tammen2 on 08 Oct 2023
- Changed by Imke Tammen2 on 08 Oct 2023