| First Author | Shmukler BE | Year | 2000 |
| Journal | Biochim Biophys Acta | Volume | 1492 |
| Issue | 2-3 | Pages | 353-61 |
| PubMed ID | 11004507 | Mgi Jnum | J:63625 |
| Mgi Id | MGI:1861310 | Doi | 10.1016/s0167-4781(00)00118-4 |
| Citation | Shmukler BE, et al. (2000) Structure and genetic polymorphism of the mouse KCC1 gene. Biochim Biophys Acta 1492(2-3):353-61 |
| abstractText | The KCC1 K-Cl cotransporter is a major regulator of erythroid and non-erythroid cell volume, and the KCC1 gene is a candidate modifier gene for sickle cell disease and other hemoglobinopathies. We have cloned and sequenced the mouse KCC1 (mKCC1) gene, defined its intron-exon junctions, and analyzed (AC)/(TG) intragenic polymorphisms. A highly polymorphic (AC) repeat of mKCC1 intron 1 was characterized in musculus strains, and used to prove lack of linkage between the mKCC1 gene and the rol (resistant to osmotic lysis) locus. The intron 1 (AC) repeat in CAST/Ei and SPRET/Ei was not only more divergent in length but also underwent additional sequence variation. A dimorphic (TG) repeat in intron 2 distinguished CAST/Ei from other strains, and an intron 17 B1 Alu-like SINE present in all musculus strains was found to be absent from intron 17 in SPRET/Ei. These and additional described strain-specific polymorphisms will be useful mapping and genetic tools in the study of mouse models of sickle cell disease. |
