| First Author | Lewis J | Year | 1998 |
| Journal | Blood | Volume | 91 |
| Issue | 6 | Pages | 2152-6 |
| PubMed ID | 9490703 | Mgi Jnum | J:64295 |
| Mgi Id | MGI:1889064 | Doi | 10.1182/blood.v91.6.2152.2152_2152_2156 |
| Citation | Lewis J, et al. (1998) A common human beta globin splicing mutation modeled in mice. Blood 91(6):2152-6 |
| abstractText | The betaIVS-2-654 C-->T mutation accounts for approximately 20% of beta thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to beta0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the 'plug and socket' method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult beta globin genes with a single copy of the human betaIVS-2-654 gene. No homozygous mice survive postnatally. Heterozygous mice carrying this mutant gene produce reduced amounts of the mouse beta globin chains and no human beta globin, and have a moderate form of beta thalassemia. The heterozygotes show the same aberrant splicing as their human counterparts and provide an animal model for testing therapies to correct splicing defects at either the RNA or DNA level. |
