- abnormal brain development / MGI
- abnormal forebrain development / MGI
- abnormal midbrain development / MGI
- abnormal first pharyngeal arch morphology / MGI
- acephaly / MGI
- abnormal maxillary prominence morphology / MGI
- microcephaly / MGI
- exencephaly / MGI
- open neural tube / MGI
- anencephaly / MGI
- reduced fertility / MGI
- abnormal motor capabilities/coordination/movement / MGI
- decreased midbrain size / MGI
- decreased forebrain size / MGI
STOCK Otx2tm2Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05630 |
International strain name | STOCK Otx2tm2Asim/Cnrm |
Alternative name | Otx2-λ |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Otx2tm2Asim, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Insertion of a 300bp fragment of lambda phage DNA in the 3 prime UTR of Otx2. |
Phenotypic information | Homozygous embryos exhibited proper gastrulation and normal patterning of the early anterior neural plate, but from 8.5 days post coitum they developed severe forebrain and midbrain abnormalities. |
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
- Forebrain and midbrain development requires epiblast-restricted Otx2 translational control mediated by its 3' UTR.;Boyl P P, Signore M, Acampora D, Martinez-Barbera J P, Ilengo C, Annino A, Corte G, Simeone A, ;2001;Development (Cambridge, England);128;2989-3000; 11532921
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