STOCK Otx2tm9Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05628 |
International strain name | STOCK Otx2tm9Asim/Cnrm |
Alternative name | Otx2-Δ3SS |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Otx2tm9Asim, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Mutation of splice site affecting Otx2 distal isoforms. |
Phenotypic information | Homozygous embryos exhibited severe head abnormalities. In particular about 60% of them showed exencephaly and additional defects and the residual 40% a headless phenotype. |
Breeding history | 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
MGI phenotypes (allele matching)
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
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