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| SWAYING IS A MUTANT ALLELE OF THE PROTOONCOGENE WNT-1 |
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| Author(s): THOMAS KR, MUSCI TS, NEUMANN PE, CAPECCHI MR |
| Source: CELL Volume: 67 Issue: 5 Pages: 969-976 Published: NOV 29 1991 |
| Times Cited: 167 References: 53 |
| Abstract: Mice homozygous for the recessive mutation swaying (sw) am characterized by ataxia and hypertonia, attributed to the malformation of anterior regions of the cerebellum. We show that sw is a deletion of a single base pair from the proto-oncogene Wnt-1. The deletion is Predicted to cause premature termination of translation, eliminating the carboxy-terminal half of the Wnt-1 Protein. Histological examination shows that sw is phenotypically identical to a previously described wnt-1 mutation introduced into mice by gene targeting. Although both mutations in Wnt-1 disrupt primarily the development of the anterior cerebellum, they also exhibit a variability in expressivity such that rostrally adjacent structures in the midbrain and caudally adjacent structures in the posterior cerebellum can also be affected. |
| Document Type: Article |
| Language: English |
| Reprint Address: THOMAS, KR (reprint author), UNIV UTAH, MED CTR, COLL MED, HOWARD HUGHES MED INST, ECCLES INST HUMAN GENET, SALT LAKE CITY, UT 84112 USA |
Addresses:
1. CHILDRENS HOSP MED CTR, DEPT NEUROL, BOSTON, MA 02115 USA
2. HARVARD UNIV, SCH MED, BOSTON, MA 02115 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: GT755 |
| ISSN: 0092-8674 |
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