OMIA:002582-9913 : Hepatocellular fibrinogen storage disease in Bos taurus (taurine cattle)

Categories: Liver/biliary system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."

Breed: Japanese Black, Japan (Cattle) (VBO_0004987).
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
DGKG diacylglycerol kinase gamma Bos taurus 1 NC_037328.1 (80873660..81100111) DGKG Homologene, Ensembl , NCBI gene

Variants

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
1624 Japanese Black, Japan (Cattle) Hepatic fibrinogen storage disease DGKG missense Genome-editing (CRISPR-Cas9) ARS-UCD1.3 1 g.81082187C>T c.2162C>T p.T721I XM_002684869.5; XP_002684915.3 2023 37681469

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002582-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

2023 Jacinto, J.G.P., Wohlsein, P., Häfliger, I.M., Karl, M., Pohlers, M., Plobner, L., Grünberg, W., Drögemüller, C. :
A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle. J Vet Intern Med , 2023. Pubmed reference: 37681469. DOI: 10.1111/jvim.16865.
2002 Yamada, M., Nakamura, K., Nakajima, Y., Yamamoto, M., Komae, H., Okuda, K., Tsuji, M., Arai, M. :
Ground-glass hepatocytes in fibrinogen storage disease in Japanese Black calves. J Comp Pathol 126:95-9, 2002. Pubmed reference: 11944997. DOI: 10.1053/jcpa.2001.0525.

Edit History


  • Created by Imke Tammen2 on 28 Oct 2022
  • Changed by Imke Tammen2 on 28 Oct 2022
  • Changed by Imke Tammen2 on 14 Sep 2023