Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
BMC Dev Biol 2008 Jun 23;8:118. doi: 10.1186/1471-213X-8-118.
Show Gene links Show Anatomy links

Pleiotropic effects in Eya3 knockout mice.

Söker T , Dalke C , Puk O , Floss T , Becker L , Bolle I , Favor J , Hans W , Hölter SM , Horsch M , Kallnik M , Kling E , Moerth C , Schrewe A , Stigloher C , Topp S , Gailus-Durner V , Naton B , Beckers J , Fuchs H , Ivandic B , Klopstock T , Schulz H , Wolf E , Wurst W , Bally-Cuif L , de Angelis MH , Graw J .

In Drosophila, mutations in the gene eyes absent (eya) lead to severe defects in eye development. The functions of its mammalian orthologs Eya1-4 are only partially understood and no mouse model exists for Eya3. Therefore, we characterized the phenotype of a new Eya3 knockout mouse mutant. Expression analysis of Eya3 by in-situ hybridizations and beta-Gal-staining of Eya3 mutant mice revealed abundant expression of the gene throughout development, e.g. in brain, eyes, heart, somites and limbs suggesting pleiotropic effects of the mutated gene. A similar complex expression pattern was observed also in zebrafish embryos. The phenotype of young adult Eya3 mouse mutants was systematically analyzed within the German Mouse Clinic. There was no obvious defect in the eyes, ears and kidneys of Eya3 mutant mice. Homozygous mutants displayed decreased bone mineral content and shorter body length. In the lung, the tidal volume at rest was decreased, and electrocardiography showed increased JT- and PQ intervals as well as decreased QRS amplitude. Behavioral analysis of the mutants demonstrated a mild increase in exploratory behavior, but decreased locomotor activity and reduced muscle strength. Analysis of differential gene expression revealed 110 regulated genes in heart and brain. Using real-time PCR, we confirmed Nup155 being down regulated in both organs. The loss of Eya3 in the mouse has no apparent effect on eye development. The wide-spread expression of Eya3 in mouse and zebrafish embryos is in contrast to the restricted expression pattern in Xenopus embryos. The loss of Eya3 in mice leads to a broad spectrum of minor physiological changes. Among them, the mutant mice move less than the wild-type mice and, together with the effects on respiratory, muscle and heart function, the mutation might lead to more severe effects when the mice become older. Therefore, future investigations of Eya3 function should focus on aging mice.

PubMed ID: 19102749
PMC ID: PMC2653502
Article link: BMC Dev Biol

Species referenced: Xenopus
Genes referenced: actl6a dach1 dach2 epha8 erg eya1 eya3 gal.2 nup155 pax6 pitx3 rpe six1 six6 zic1

Article Images: [+] show captions
References [+] :
Abdelhak, Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 1998, Pubmed