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Human Molecular Genetics, 2003, Vol. 12, No. 11 1301-1312
DOI: 10.1093/hmg/ddg140
© 2003 Oxford University Press

An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina

Ekaterina Semenova1, XiaoFei Wang2, Monica M. Jablonski2, John Levorse1 and Shirley M. Tilghman1,*

1Howard Hughes Medical Institute, Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA and 2Department of Ophthalmology, Retinal Degeneration Research Center, The University of Tennessee Health Science Center, Memphis, TN 38163, USA

Received January 26, 2003; Accepted March 30, 2003

The Acrg minimal region is a 1.5–1.7 Mb domain defined by genetic complementation among deletions generated around Ednrb on chromosome 14 in mice. Mice homozygous for one of the deletions, Ednrbs-1Acrg, exhibit embryonic lethality with defects associated with mesoderm development. We predicted that the region contains a single cluster of four genes that encode a TBC domain-containing protein (KIAA0603), a novel protein AK000009, the ubiquitin C-terminal hydrolase L3 (UCHL3) and an F-box/PDZ/LIM domain protein LMO7. A targeted internal deletion of Uchl3 (Uchl3{Delta}3-7) produced viable mice, eliminating this gene as a candidate for the embryonic lethality. To dissect the Acrg minimal region further, we utilized Cre–loxP-mediated chromosome engineering to generate a targeted 800 kb deletion (Lmo7{Delta}800) that removes the distal portion of the region. The deletion includes Uchl3, Lmo7 and an additional 500 kb downstream of the 3' end of Lmo7 where no genes are thought to reside. We found that ~40% of mice homozygous for this deletion die between birth and weaning, and are severely runted. The remaining homozygotes are viable, thus ruling out Lmo7 as a single gene candidate for the Ednrbs-1Acrg embryonic lethality. Both Uchl3{Delta}3-7 and Lmo7{Delta}800 mutants displayed retinal degeneration, muscular degeneration and growth retardation, but the severity of the muscular degeneration and growth retardation were enhanced in Lmo7{Delta}800 homozygotes. We suggest that the increase in severity may reflect an interaction between Uchl3 and Lmo7 in the ubiquitin-mediated protein degradation pathway.

* To whom correspondence should be addressed at: One Nassau Hall, Princeton University, Princeton, NJ 08544, USA. Tel: +1 6092586100; Fax: +1 6092581615; Email: smt{at}princeton.edu


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