| First Author | Duyao MP | Year | 1995 |
| Journal | Science | Volume | 269 |
| Issue | 5222 | Pages | 407-10 |
| PubMed ID | 7618107 | Mgi Jnum | J:27183 |
| Mgi Id | MGI:74603 | Doi | 10.1126/science.7618107 |
| Citation | Duyao MP, et al. (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269(5222):407-10 |
| abstractText | Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To distinguish between loss of function and gain of function models of HD, the murine HD homolog Hdh was inactivated by gene targeting. Mice heterozygous for Hdh inactivation were phenotypically normal, whereas homozygosity resulted in embryonic death. Homozygotes displayed abnormal gastrulation at embryonic day 7.5 and were resorbing by day 8.5. Thus, huntingtin is critical early in embryonic development, before the emergence of the nervous system. That Hdh inactivation does not mimic adult HD neuropathology suggests that the human disease involves a gain of function. |
