- abnormal forebrain development / MGI
- abnormal midbrain development / MGI
- abnormal craniofacial development / MGI
- abnormal embryonic neuroepithelium morphology / MGI
- abnormal first pharyngeal arch morphology / MGI
- acephaly / MGI
- abnormal maxillary prominence morphology / MGI
- abnormal cephalic neural fold morphology / MGI
- rostral body truncation / MGI
- abnormal anterior head development / MGI
STOCK Otx2tm1(OTX1)Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05631 |
International strain name | STOCK Otx2tm1(OTX1)Asim/Cnrm |
Alternative name | Otx2-hOtx1 |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Otx2tm1(OTX1)Asim, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Gene replacement of Otx2 with human Otx1 gene by homologous recombination. |
Phenotypic information | About 50% of the expected homozygous embryos reached the end of gestation showing a dramatic headless phenotype even though about 15% of them showed residual, heavily abnormal craniofacial structures. |
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
MGI phenotypes (allele matching)
Literature references
- Visceral endoderm-restricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation.;Acampora D, Avantaggiato V, Tuorto F, Briata P, Corte G, Simeone A, ;1998;Development (Cambridge, England);125;5091-104; 9811592
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).