OMIA:002878-9823 : Diabetes mellitus, HNF1A-related in Sus scrofa (pig) |
Categories: Homeostasis / metabolism phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 142410 (gene) , 600496 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Molecular basis: Umeyama et al. (2009): "Transgenic cloned pigs carrying a mutant human hepatocyte nuclear factor 1alpha gene [HNF-1α (P291fsinsC)], which is known to cause the type 3 form of maturity-onset diabetes of the young, were produced using a combined technology of intracytoplasmic sperm injection-mediated gene transfer and somatic cell nuclear transfer." This study involves genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Umeyama et al. (2017): "The transgenic progeny maintained a high blood glucose level (>200mg/dL). ... [T]he oral glucose tolerance test results showed that the recovery of blood glucose levels in the transgenic progeny was significantly delayed ... .
Pathology: Umeyama et al. (2017) reported hypoplasia of the islets of Langerhans, non-proliferative diabetic retinopathy, and diabetic nephropathy in the transgenic progeny.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HNF1A | HNF1 homeobox A | Homo sapiens | 12 | NC_000012.12 (120978543..121002512) | HNF1A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1728 | Diabetes mellitus, HNF1A-related | HNF1A | insertion, gross (>20) | Transgenesis via somatic cell nuclear transfer (SCNT) | integration of human HNF1⍺ gene with a P291fsinC mutation | 2009 | 19357985 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002878-9823: 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.
| 2024 | Nagaoka, T., Yokota, H., Watanabe, M., Aso, H., Takase, K., Hanaguri, J., Ohno, A., Kushiyama, A., Harino, S., Yamagami, S. : |
| Impairment of flicker-induced increase in retinal blood flow in diabetic pigs. Jpn J Ophthalmol 68:362-366, 2024. Pubmed reference: 38874665. DOI: 10.1007/s10384-024-01073-3. | |
| 2023 | Takase, K., Yokota, H., Ohno, A., Watanabe, M., Kushiyama, A., Kushiyama, S., Yamagami, S., Nagaoka, T. : |
| A pilot study of diabetic retinopathy in a porcine model of maturity onset diabetes of the young type 3 (MODY3). Exp Eye Res 227:S0014-4835(22)00460-2:109379, 2023. Pubmed reference: 36608813. DOI: 10.1016/j.exer.2022.109379. | |
| 2017 | Umeyama, K., Nakajima, M., Yokoo, T., Nagaya, M., Nagashima, H. : |
| Diabetic phenotype of transgenic pigs introduced by dominant-negative mutant hepatocyte nuclear factor 1α. J Diabetes Complications 31:S1056-8727(16)30529-3:796-803, 2017. Pubmed reference: 28254450. DOI: 10.1016/j.jdiacomp.2017.01.025. | |
| 2013 | Umeyama, K., Honda, K., Matsunari, H., Nakano, K., Hidaka, T., Sekiguchi, K., Mochizuki, H., Takeuchi, Y., Fujiwara, T., Watanabe, M., Nagaya, M., Nagashima, H. : |
| Production of diabetic offspring using cryopreserved epididymal sperm by in vitro fertilization and intrafallopian insemination techniques in transgenic pigs. J Reprod Dev 59:599-603, 2013. Pubmed reference: 23979397. DOI: 10.1262/jrd.2013-069. | |
| 2009 | Umeyama, K., Watanabe, M., Saito, H., Kurome, M., Tohi, S., Matsunari, H., Miki, K., Nagashima, H. : |
| Dominant-negative mutant hepatocyte nuclear factor 1alpha induces diabetes in transgenic-cloned pigs. Transgenic Res 18:697-706, 2009. Pubmed reference: 19357985. DOI: 10.1007/s11248-009-9262-3. |
Edit History
- Created by Imke Tammen2 on 26 Aug 2024
- Changed by Imke Tammen2 on 26 Aug 2024