| First Author | Carter MG | Year | 2000 |
| Journal | Hum Mol Genet | Volume | 9 |
| Issue | 3 | Pages | 413-9 |
| PubMed ID | 10655551 | Mgi Jnum | J:60589 |
| Mgi Id | MGI:1353700 | Doi | 10.1093/hmg/9.3.413 |
| Citation | Carter MG, et al. (2000) Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. Hum Mol Genet 9(3):413-9 |
| abstractText | HIC1 is a candidate tumor suppressor gene which is frequently hypermethylated in human tumors, and its location within the Miller-Dieker syndrome's critical deletion region at chromosome 17p13.3 makes it a candidate gene for involvement in this gene deletion syndrome. To study the function of murine Hic1 in development, we have created Hic1 -deficient mice. These animals die perinatally and exhibit varying combinations of gross developmental defects throughout the second half of development, including acrania, exencephaly, cleft palate, limb abnormalities and omphalocele. These findings demonstrate a role for Hic1 in the development of structures affected in the Miller-Dieker syndrome, and provide functional evidence to strengthen its candidacy as a gene involved in this disorder. |
