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
Disease-related: 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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1624 | Japanese Black, Japan (Cattle) | Hepatic fibrinogen storage disease | DGKG | missense | Genome-editing (CRISPR-Cas9) | ARS-UCD1.3 | 1 | NC_037328.1:g.81082187C>T | XM_002684869.5:c.2162C>T | XP_002684915.3: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 37:2631-2637, 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