MGI phenotypes (allele matching)
STOCK Otx2tm10Asim/Cnrm
| Status | Available to order |
| EMMA ID | EM:05629 |
| International strain name | STOCK Otx2tm10Asim/Cnrm |
| Alternative name | Otx2-ΔCD |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Otx2tm10Asim, |
| Gene/Transgene symbol | Otx2 |
Information from provider
| Provider | Antonio Simeone |
| Provider affiliation | Ceinge Biotecnologie Avanzate |
| Genetic information | Deletion of proximal transcriptional start site of Otx2. |
| Phenotypic information | About 50% of the homozygous embryos exhibit mild head defects and about 30% of them a very severe phenotype affecting also the body axis. |
| Breeding history | Mice were always maintained in a mixed C57BL/6 and DBA/2 genetic background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Combined pituitary hormone deficiencies, genetic forms / Orphanet_95494
- Butterfly-shaped pigment dystrophy / Orphanet_99001
- Colobomatous microphthalmia / Orphanet_98938
- Nanophthalmos / Orphanet_35612
- Syndromic microphthalmia type 5 / Orphanet_178364
- Septo-optic dysplasia spectrum / Orphanet_3157
Literature references
- Selective inactivation of Otx2 mRNA isoforms reveals isoform-specific requirement for visceral endoderm anteriorization and head morphogenesis and highlights cell diversity in the visceral endoderm.;Acampora Dario, Di Giovannantonio Luca Giovanni, Di Salvio Michela, Mancuso Pietro, Simeone Antonio, ;2009;Mechanisms of development;126;882-97; 19615442