OMIA:001958-9913 : Growth retardation due to haplotype FH2 in Bos taurus (taurine cattle)
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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 (96452902..96485584)||SLC2A2||Homologene, Ensembl , NCBI gene|
Cite this entry
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.|
- Created by Frank Nicholas on 28 Apr 2015
- Changed by Frank Nicholas on 30 Apr 2015
- Changed by Frank Nicholas on 13 Apr 2016