OMIA:000662-9940 : Motor neuron disease, lower in Ovis aries (sheep)

In other species: dog , horse , pig , South Island takahe

Categories: Nervous system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Molecular basis: Genome-wide homozygosity mapping in a family in which this disorder was segregating led to Zhao et al. (2012) discovering the causal mutation as a "missense mutation c.2909G>C on exon 21 of AGTPBP1" which results in "an Arg to Pro substitution (p.Arg970Pro) at amino acid 970, which is a conserved residue for the catalytic activity of AGTPBP1". The authors also report that "The ATP/GTP-binding protein 1 gene (Agtpbp1) has been shown to be related to Purkinje cell degeneration (pcd) phenotypes including ataxia in mice."

Breed: Romney Marsh (Sheep) (VBO_0001582).
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
AGTPBP1 ATP/GTP binding protein 1 Ovis aries 2 NC_056055.1 (33978899..34170838) AGTPBP1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
233 Romney Marsh (Sheep) Motor neuron disease, lower AGTPBP1 missense Naturally occurring variant Oar_rambouillet_v1.0 2 g.35795594G>C c.2909G>C p.(R970P) protein and cDNA positions are based on XP_014948529.2 and XM_015093043.2, respectively 2012 22588130 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000662-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2012 Zhao, X., Onteru, S.K., Dittmer, K., Parton, K., Blair, H., Rothschild, M.F., Garrick, D.J. :
A heritable AGTPBP1 missense mutation is responsible for a lower motor neuron disease in Romney sheep. Plant & Animal Genome (PAG) XX :Abstract P0587, 2012.
Zhao, X., Onteru, S.K., Dittmer, K.E., Parton, K., Blair, H.T., Rothschild, M.F., Garrick, D.J. :
A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity (Edinb) 109:156-62, 2012. Pubmed reference: 22588130. DOI: 10.1038/hdy.2012.23.

Edit History

  • Created by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 21 Mar 2012