IMPC phenotypes (allele matching)
B6;129S2-Eya3Gt(W096D02)Wrst/Ieg
| Status | Available to order |
| EMMA ID | EM:04534 |
| International strain name | B6;129S2-Eya3Gt(W096D02)Wrst/Ieg |
| Alternative name | Eya3 |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Eya3Gt(W096D02)Wrst |
| Gene/Transgene symbol | Eya3 |
Information from provider
| Provider | Jochen Graw |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Additional owner | Dr. Thomas Floss and Prof. Wolfgang Wurst, Helmholtz Zentrum München, Neuherberg, Germany |
| Genetic information | Gene trap vector insertion occurred in intron 7 of the Eya3 gene. RT-PCR and Northern blotting demonstrated the complete loss of exons 8-15 of the Eya3 gene in homozygous mutant animals. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
| Phenotypic information | Expression analysis 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. 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, Nup155 is down regulated in both organs. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C57BL/6J |
Disease and phenotype information
MGI phenotypes (allele matching)
- decreased bone mineral density / MGI
- decreased body length / MGI
- decreased body weight / MGI
- increased exploration in new environment / MGI
- prolonged PR interval / MGI
- renal/urinary system phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- vision/eye phenotype / MGI
- decreased tidal volume / MGI
- decreased grip strength / MGI
- decreased QRS amplitude / MGI
- abnormal heart electrocardiography waveform feature / MGI
MGI phenotypes (gene matching)
- decreased bone mineral density / MGI
- decreased body length / MGI
- decreased body weight / MGI
- increased exploration in new environment / MGI
- prolonged PR interval / MGI
- renal/urinary system phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- vision/eye phenotype / MGI
- decreased tidal volume / MGI
- decreased grip strength / MGI
- decreased QRS amplitude / MGI
- abnormal heart electrocardiography waveform feature / MGI
Literature references
- Pleiotropic effects in Eya3 knockout mice.;Söker Torben, Dalke Claudia, Puk Oliver, Floss Thomas, Becker Lore, Bolle Ines, Favor Jack, Hans Wolfgang, Hölter Sabine M, Horsch Marion, Kallnik Magdalena, Kling Eva, Moerth Corinna, Schrewe Anja, Stigloher Christian, Topp Stefanie, Gailus-Durner Valerie, Naton Beatrix, Beckers Johannes, Fuchs Helmut, Ivandic Boris, Klopstock Thomas, Schulz Holger, Wolf Eckhard, Wurst Wolfgang, Bally-Cuif Laure, de Angelis Martin Hrabé, Graw Jochen, ;2008;BMC developmental biology;8;118; 19102749