caa a22 4500 469062371 CHVBK 20180323132901.0 cr unu---uuuuu 170328e19920801xx s 000 0 eng 10.1007/BF00356152 doi (NATIONALLICENCE)springer-10.1007/BF00356152 The same genomic region is disrupted in two transgene-induced limb deformity alleles [Elektronische Daten] [Thomas Vogt, Laurie Jackson-Grusby, Anthony Wynshaw-Boris, David Chan, Philip Leder] Mutations of the mouse limb deformity locus, ld, map to Chromosome (Chr) 2 and result in defects in the morphogenesis and patterning of the limb and kidney. Complementation studies have defined the existence of five recessive ld alleles. Remarkably, two of these, ld TgHdand ld TgBri, are transgene-induced mutations. Recovery of the first transgene insertional allele, ld TgHd, facilitated the molecular cloning of a large (>200 kb) candidate gene at the ld locus. This gene is broadly transcribed and encodes a set of novel protein isoforms, termed formins. Here we present characterization of the ld TgBrimutation that supports the molecular identification of the ld gene. We show that the ld TgBrifails to complement both the ld TgHdand the ld ORalleles and that it has undergone a genomic deletion that disrupts the cloned ld gene and its transcripts. Curiously, the ld TgBrideletion encompasses the same 11-kb interval in which the ld TgHdinsertion occurred and in which a chromosomal rearrangement has been identified in a third allele, ld In2. These findings suggest that this region of the ld gene is a preferential site for illegitimate recombination. Springer-Verlag New York Inc, 1992 Vogt Thomas Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut Jackson-Grusby Laurie Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut Wynshaw-Boris Anthony Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut Chan David Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut Leder Philip Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut Mammalian Genome Springer-Verlag 3/8(1992-08-01), 431-437 0938-8990 3:8<431 1992 3 335 https://doi.org/10.1007/BF00356152 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00356152 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vogt Thomas Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Jackson-Grusby Laurie Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Wynshaw-Boris Anthony Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Chan David Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Leder Philip Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts, USA aut NATIONALLICENCE 773 0- Mammalian Genome Springer-Verlag 3/8(1992-08-01), 431-437 0938-8990 3:8<431 1992 3 335 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer