STOCK Otx2tm3(otd)Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05632 |
International strain name | STOCK Otx2tm3(otd)Asim/Cnrm |
Alternative name | Otx2-Otd |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Otx2tm3(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. |
Phenotypic information | All homozygous embryos at 10.5 d.p.c. had a striking headless phenotype, approximately one third also had a reduced body size. Moreover in mutants, the maxillary process, the mandibular arch and their derivatives were strongly impaired or absent. |
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 |
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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
MGI phenotypes (allele matching)
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
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