- abnormal rod electrophysiology / MGI
- vision/eye phenotype / MGI
- decreased retinal ganglion cell number / MGI
- decreased retinal cone cell number / MGI
- thin retinal inner nuclear layer / MGI
- thin retinal outer nuclear layer / MGI
- abnormal head morphology / MGI
- forebrain hypoplasia / MGI
- neonatal lethality, complete penetrance / MGI
- midbrain hypoplasia / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- decreased retinal photoreceptor cell number / MGI
- abnormal optic nerve morphology / MGI
- nervous system phenotype / MGI
- abnormal cone electrophysiology / MGI
- abnormal retinal pigment epithelium morphology / MGI
- abnormal horizontal cell morphology / MGI
- abnormal retinal bipolar cell morphology / MGI
- decreased visual acuity / MGI
- mortality/aging / MGI
STOCK Otx2tm12.1Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05641 |
International strain name | STOCK Otx2tm12.1Asim/Cnrm |
Alternative name | Otx2 RK-AA |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Otx2tm12.1Asim, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Replacement of the aminoacids Arg 36 and Lys 37 with two Ala (R36A, K37A). |
Phenotypic information | Eye problems, lowering of diopters. |
References | None available |
Homozygous fertile | yes |
Homozygous viable | yes |
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)
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