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OMIA:002381-9913 : Skeletal-cardio-enteric dysplasia, MAP2K2-related in Bos taurus (taurine cattle)

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615280 (trait) , 601263 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: skeletal-cardio-enteric dysplasia

Species-specific description: Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."

Molecular basis: Jacinto et al. (2021): "Genetic analysis revealed a private heterozygous missense variant in MAP2K2:p.Arg179Trp, located in the protein kinase domain in the calf, and not found in more than 4500 control genomes including its sire. The identified variant affecting a conserved residue was predicted to be deleterious and most likely occurred de novo."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Jacinto et al. (2021): "The [stillborn] calf showed reduced fetal growth, a short-spine, a long and narrow face, cardiac defects and heterotopy of the spiral colon."

Breed: Romagnola (Cattle) (VBO_0000360).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MAP2K2 mitogen-activated protein kinase kinase 2 Bos taurus 7 NC_037334.1 (19909636..19930988) MAP2K2 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1473 Romagnola (Cattle) Skeletal-cardio-enteric dysplasia MAP2K2 missense Naturally occurring variant ARS-UCD1.2 7 g.19923991C>T c.535G>A p.(R179W) NM_001038071.2; NP_001033160.2; possible de-novo causal variant 2021 34209498
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002381-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2021 Jacinto, J.G.P., Häfliger, I.M., Gentile, A., Drögemüller, C. :
A heterozygous missense variant in MAP2K2 in a stillborn Romagnola calf with skeletal-cardio-enteric dysplasia. Animals (Basel) 11, 2021. Pubmed reference: 34209498. DOI: 10.3390/ani11071931.

Edit History


  • Created by Imke Tammen2 on 11 Aug 2021
  • Changed by Imke Tammen2 on 11 Aug 2021