MGI phenotypes (allele matching)
STOCK Otx2tm4(otd)Asim/Cnrm
| Status | Available to order |
| EMMA ID | EM:05633 |
| International strain name | STOCK Otx2tm4(otd)Asim/Cnrm |
| Alternative name | Otx2FL-Otd |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Otx2tm4(otd)Asim, |
| Gene/Transgene symbol | Otx2 |
Information from provider
| Provider | Antonio Simeone |
| Provider affiliation | Ceinge Biotecnologie Avanzate |
| Genetic information | Gene replacement of Otx2 with Otd Drosophila gene by homologous recombination, maintaining the Otx2 flanking regions. |
| Phenotypic information | Homozygous embryos exhibited an evident morphological rescue of the anterior defects observed in Otx2 embryos, even though, head and brain development still appeared compromised. |
| Breeding history | Targeted mutation was introduced in HM-1 ES cells. Mice were always maintained in a mixed C57BL/6 and DBA/2 genetic background. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| 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
- OTD/OTX2 functional equivalence depends on 5' and 3' UTR-mediated control of Otx2 mRNA for nucleo-cytoplasmic export and epiblast-restricted translation.;Acampora D, Boyl P P, Signore M, Martinez-Barbera J P, Ilengo C, Puelles E, Annino A, Reichert H, Corte G, Simeone A, ;2001;Development (Cambridge, England);128;4801-13; 11731460