Characterization of chromosomal inversion of the mouse hairy ears (Eh) mutation associated with cleft palate

Mammalian Genome : Official Journal of the International Mammalian Genome Society
Kentaro KatayamaTetsuo Kunieda

Abstract

The hairy ears (Eh) mutation in the mouse originated from neutron irradiation experiments and is associated with chromosomal inversion on chromosome 15. Eh/+ mice have small pinna and extra hairs on the pinna but the phenotypic features of Eh/Eh mice are unclear. In this study we found that Eh/Eh mice died shortly after birth and had a cleft palate caused by impaired growth of palate shelves. Because genes located on the breakpoints of inversion are likely to be responsible for the defects associated with chromosomal inversions, we determined the breakpoints of the Eh inversion. We used a new genetic method that uses recombinant chromosomes resulting from crossing over between two overlapping inversions to determine the breakpoints. Koa is a mouse mutation associated with inversion of chromosome 15, which partially overlaps with the Eh inversion. We made Eh +/+ Koa double heterozygotes and obtained the recombinant chromosomes possessing deletion and duplication of the regions flanked by the breakpoints of both inversions, which were generated by crossing over within the overlapped region of these inversions. By defining the deleted regions we identified the breakpoints of the Eh inversion. We then examined the expression of gen...Continue Reading

Citations

Dec 11, 1992·The Journal of Experimental Zoology·S KaurS S Potter
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·G E HomanicsR W Olsen
Jun 10, 1997·Proceedings of the National Academy of Sciences of the United States of America·H AsadaK Obata
Oct 23, 1997·Proceedings of the National Academy of Sciences of the United States of America·B G CondieM R Capecchi
Nov 13, 1998·Proceedings of the National Academy of Sciences of the United States of America·R B HoughM Bućan
Dec 28, 1999·Proceedings of the National Academy of Sciences of the United States of America·Y ZhaoH Westphal
Apr 13, 2000·Proceedings of the National Academy of Sciences of the United States of America·N HagiwaraM H Brilliant
Jun 5, 2001·Nature Reviews. Genetics·A O Wilkie, G M Morriss-Kay
May 29, 2002·Clinical Genetics·J C Murray
Aug 2, 2002·Facial Plastic Surgery : FPS·Nina Wantia, Gerhard Rettinger
Aug 31, 2002·Developmental Dynamics : an Official Publication of the American Association of Anatomists·M J ShamblottJ D Gearhart
May 22, 2004·Experimental Animals·Yusuke ShinkaiTetsuo Kunieda
Jun 17, 2004·The Journal of Clinical Investigation·Ritva RiceDavid P C Rice
Dec 22, 2004·Genetics·Thomas L Wise, Dimitrina D Pravtcheva
Apr 6, 2005·Human Molecular Genetics·John S Mattick, Igor V Makunin
Apr 21, 2005·The Journal of Clinical Investigation·Michael NiedermaierStefan Mundlos
May 27, 2005·Current Opinion in Genetics & Development·Astanand Jugessur, Jeffrey C Murray
Sep 1, 2006·Developmental Biology·Amel Gritli-Linde

Related Concepts

External Ear
Apoptosis, Intrinsic Pathway
Fetal Viability
Inversion Mutation Abnormality
Cleft Palate, Isolated
Gene Deletion Abnormality
Etiology
Cell Proliferation
Partial Monosomy
Chromosomal Inversion Process

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