OMIA 001958-9913 : Growth retardation due to haplotype FH2 in Bos taurus |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
227810
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
no
Mapping:
Chromosome 1: 96,169,900-97,123,740 (UMD3.1 genome assembly) (Pausch et al., 2015)
Molecular basis:
Frameshift indel: c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2 that encodes glucose transporter 2 (GLUT2)(Pausch et al., 2015).
Burgstaller et al. (2016) have provided strong evidence that this FH2 frameshift mutation is actually causative of Fanconi-Bickel syndrome (OMIA 000366-9913). Accordingly, the likely causal mutation is now listed under this disorder rather than in this entry.
Breed: Fleckvieh. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC2A2 | solute carrier family 2 (facilitated glucose transporter), member 2 | Bos taurus | 1 | NC_037328.1 (96452863..96485584) | SLC2A2 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fleckvieh | Abortion due to haplotype FH2 | SLC2A2 | indel, small (<=20) | UMD3.1 | 1 | g.97239973_97239976delTTGAAAAG | c.771_778delTTGAAAAGinsCATC | rs379675307 | 2015 | 25927203 | Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
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.
| 2016 | Burgstaller, J., Url, A., Pausch, H., Schwarzenbacher, H., Egerbacher, M., Wittek, T. : | |
| Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). Berl Munch Tierarztl Wochenschr 129:132-7, 2016. Pubmed reference: 27169150. | ||
| 2015 | Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., Fries, R. : | |
| Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics 16:312, 2015. Pubmed reference: 25927203. DOI: 10.1186/s12864-015-1483-7. |
Edit History
- Created by Frank Nicholas on 28 Apr 2015
- Changed by Frank Nicholas on 30 Apr 2015
- Changed by Frank Nicholas on 13 Apr 2016