- abnormal head morphology / MGI
- abnormal embryo development / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- vision/eye phenotype / MGI
- abnormal horizontal cell morphology / MGI
- abnormal retinal bipolar cell morphology / MGI
- decreased visual acuity / MGI
- decreased retinal cone cell number / MGI
- thin retinal inner nuclear layer / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- forebrain hypoplasia / MGI
- neonatal lethality, complete penetrance / MGI
- midbrain hypoplasia / MGI
- abnormal forebrain development / MGI
- abnormal midbrain development / MGI
- acephaly / MGI
STOCK Otx2tm11Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05624 |
International strain name | STOCK Otx2tm11Asim/Cnrm |
Alternative name | Otx2-GFP |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Otx2tm11Asim, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | The Otx2 coding sequence and introns are replaced with the GFP gene by homologous recombination. |
Phenotypic information | By 9.5 dpc, homozygous mutant embryos are characterized by the absence of forebrain and midbrain regions. |
Breeding history | Targeted mutation was introduced in E14 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
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
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).