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Science 12 August 1988: Vol. 241. no. 4867, pp. 837 - 839 DOI: 10.1126/science.3406741
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Articles
Science, Vol 241, Issue 4867, 837-839
Copyright © 1988 by American Association for the Advancement of Science
Legless, a novel mutation found in PHT1-1 transgenic mice
JD McNeish,
WJ Scott Jr,
and
SS Potter
Division of Basic Science Research, Children's Hospital Research Foundation, Cincinnati, OH.
In this report it is shown that the PHT1-1 line of transgenic mice exhibited a pattern of developmental abnormalities when the mice were homozygous for the transgene insertion. Hindlimbs were uniformly truncated at the distal end of the femur, resulting in a "legless" appearance. Forelimbs lacked anterior structures including digits and the radius. The brains had many defects, particularly in the anterior structures of the cerebrum, including the olfactory lobes. Craniofacial malformations in the form of facial clefts also commonly occurred. Furthermore, heterozygotes of this line, with only one copy of the DNA insertion, and other transgenic lines carrying the same DNA construct appeared normal, suggesting that in the PHT1-1 line a gene significant in mammalian development has been disrupted.
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