| First Author | Ai Y | Year | 2000 |
| Journal | Hum Mol Genet | Volume | 9 |
| Issue | 12 | Pages | 1821-7 |
| PubMed ID | 10915771 | Mgi Jnum | J:63743 |
| Mgi Id | MGI:1861531 | Doi | 10.1093/hmg/9.12.1821 |
| Citation | Ai Y, et al. (2000) A mouse model of galactose-induced cataracts. Hum Mol Genet 9(12):1821-7 |
| abstractText | Galactokinase (GK; EC 2.7.1.6) is the first enzyme in the metabolism of galactose. In humans, GK deficiency results in congenital cataracts due to an accumulation of galactitol within the lens. In an attempt to make a galactosemic animal model, we cloned the mouse GK gene (Glk1) and disrupted it by gene targeting. As expected, galactose was very poorly metabolized in GK-deficient mice. In addition, both galactose and galactitol accumulated in tissues of GK-deficient mice. Surprisingly, the GK-deficient animals did not form cataracts even when fed a high galactose diet. However, the introduction of a human aldose reductase transgene into a GK-deficient background resulted in cataract formation within the first postnatal day. This mouse represents the first mouse model for congenital galactosemic cataract. |
