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Unusual inheritance of the AxinFu mutation in mice is associated with widespread rearrangements in the proximal region of chromosome 17

Published online by Cambridge University Press:  16 November 2000

ANATOLY RUVINSKY
Affiliation:
Animal Science, SRSNR, University of New England, Armidale, NSW 2351, Australia
WARREN D. FLOOD
Affiliation:
Animal Science, SRSNR, University of New England, Armidale, NSW 2351, Australia
TONG ZHANG
Affiliation:
Department of Genetics and Development, Columbia University, New York, NY 10032, USA
FRANK COSTANTINI
Affiliation:
Department of Genetics and Development, Columbia University, New York, NY 10032, USA
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Abstract

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AxinFu is a mutation in mice that causes fused tails and other developmental abnormalities as a result of insertion of an intracisternal-A particle (IAP), a murine retrotransposon, into intron 6. In a small percentage of offspring we found that the mutant allele reverts to wild-type through loss of the insertion with concomitant disappearance of the mutant phenotype. Investigation of a series of microsatellite loci in the proximal region of chromosome 17 revealed novel alleles which arise simultaneously with disappearance of IAP from AxinFu. These novel microsatellite variants are distinct from the parental alleles and those so far discovered are organized into two haplotypes. Both haplotypes demonstrate stable Mendelian inheritance. Results show that these rearrangements, which are involved in the production of the new haplotypes, exceed millions of base pairs.

Type
Research Article
Copyright
© 2000 Cambridge University Press