STOCK Otx2tm4(otd)Asim/Cnrm
Status | Available to order |
EMMA ID | EM:05633 |
International strain name | STOCK Otx2tm4(otd)Asim/Cnrm |
Alternative name | Otx2FL-Otd |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Otx2tm4(otd)Asim |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Gene replacement of Otx2 with Otd Drosophila gene by homologous recombination, maintaining the Otx2 flanking regions. |
Phenotypic information | Homozygous embryos exhibited an evident morphological rescue of the anterior defects observed in Otx2 embryos, even though, head and brain development still appeared compromised. |
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)
MGI phenotypes (gene matching)
- abnormal malleus morphology / MGI
- absent mandible / MGI
- abnormal basisphenoid bone morphology / MGI
- abnormal craniofacial morphology / MGI
- abnormal head morphology / MGI
- microcephaly / MGI
- abnormal cranium morphology / MGI
- abnormal snout morphology / MGI
- short snout / MGI
- abnormal mandible morphology / MGI
- abnormal inferior colliculus morphology / MGI
- abnormal forebrain morphology / MGI
- forebrain hypoplasia / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal third ventricle morphology / MGI
- abnormal diencephalon morphology / MGI
- abnormal hindbrain morphology / MGI
- abnormal metencephalon morphology / MGI
- abnormal midbrain morphology / MGI
- abnormal trigeminal V mesencephalic nucleus morphology / MGI
- abnormal brain development / MGI
- exencephaly / MGI
- open neural tube / MGI
- abnormal oculomotor nerve morphology / MGI
- abnormal trochlear nerve morphology / MGI
- abnormal trigeminal nerve morphology / MGI
- decreased body size / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal eye distance/ position / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- decreased retinal photoreceptor cell number / MGI
- abnormal optic nerve morphology / MGI
- abnormal eyelid morphology / MGI
- abnormal embryo development / MGI
- abnormal ectoderm development / MGI
- abnormal mesoderm development / MGI
- abnormal axial mesoderm / MGI
- abnormal somite development / MGI
- abnormal somite shape / MGI
- abnormal gastrulation / MGI
- decreased embryo size / MGI
- abnormal visceral yolk sac morphology / MGI
- abnormal allantois morphology / MGI
- embryonic growth arrest / MGI
- anencephaly / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- decreased litter size / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- abnormal developmental patterning / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal eye morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- small heart / MGI
- abnormal primitive streak formation / MGI
- abnormal nasal cavity morphology / MGI
- abnormal nasal septum morphology / MGI
- abnormal vomeronasal organ morphology / MGI
- abnormal nasopharynx morphology / MGI
- micrognathia / MGI
- abnormal sclera morphology / MGI
- decreased circulating luteinizing hormone level / MGI
- abnormal notochord morphology / MGI
- aphakia / MGI
- abnormal forebrain development / MGI
- abnormal alisphenoid bone morphology / MGI
- absent olfactory bulb / MGI
- nervous system phenotype / MGI
- abnormal retinal layer morphology / MGI
- abnormal facial morphology / MGI
- abnormal palate morphology / MGI
- abnormal nervous system development / MGI
- abnormal midbrain development / MGI
- absent pharyngeal arches / MGI
- abnormal craniofacial development / MGI
- embryonic growth retardation / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- abnormal primitive node morphology / MGI
- abnormal midbrain-hindbrain boundary development / MGI
- abnormal adenohypophysis morphology / MGI
- abnormal embryonic neuroepithelium morphology / MGI
- abnormal presphenoid bone morphology / MGI
- abnormal pterygoid bone morphology / MGI
- basisphenoid bone foramen / MGI
- absent maxilla / MGI
- small mandible / MGI
- abnormal nasal capsule morphology / MGI
- decreased testis weight / MGI
- absent nasal septum / MGI
- absent mandibular coronoid process / MGI
- abnormal ciliary ganglion morphology / MGI
- abnormal amnion morphology / MGI
- abnormal incus morphology / MGI
- holoprosencephaly / MGI
- abnormal anterior eye segment morphology / MGI
- abnormal retinal pigment epithelium morphology / MGI
- abnormal rostral-caudal axis patterning / MGI
- abnormal extraocular muscle morphology / MGI
- aniridia / MGI
- absent pituitary gland / MGI
- small cranium / MGI
- embryo phenotype / MGI
- craniofacial phenotype / MGI
- reproductive system phenotype / MGI
- vision/eye phenotype / MGI
- retinal pigment epithelium hyperplasia / MGI
- abnormal Meckel's cartilage morphology / MGI
- abnormal horizontal cell morphology / MGI
- abnormal retinal bipolar cell morphology / MGI
- abnormal hindbrain development / MGI
- decreased visual acuity / MGI
- absent nasal placodes / MGI
- absent optic vesicle / MGI
- decreased retinal ganglion cell number / MGI
- abnormal first pharyngeal arch morphology / MGI
- abnormal gonadotroph morphology / MGI
- decreased gonadotroph cell number / MGI
- absent nasal capsule / MGI
- decreased retinal cone cell number / MGI
- thin retinal inner nuclear layer / MGI
- thin retinal outer nuclear layer / MGI
- abnormal olfactory epithelium morphology / MGI
- absent choroid plexus / MGI
- abnormal mesendoderm development / MGI
- otocephaly / MGI
- acephaly / MGI
- abnormal pretectal region morphology / MGI
- impaired somite development / MGI
- absent tongue / MGI
- mortality/aging / MGI
- abnormal maxillary prominence morphology / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal cephalic neural fold morphology / MGI
- absent heart / MGI
- fused somites / MGI
- absent foregut / MGI
- absent midbrain / MGI
- decreased midbrain size / MGI
- midbrain hypoplasia / MGI
- abnormal midbrain-hindbrain boundary morphology / MGI
- embryonic-extraembryonic boundary constriction / MGI
- absent forebrain / MGI
- decreased forebrain size / MGI
- rostral body truncation / MGI
- absent cornea / MGI
- absent prechordal mesoderm / MGI
- absent metencephalon / MGI
- absent diencephalon / MGI
- abnormal primitive streak elongation / MGI
- decreased embryonic neuroepithelium thickness / MGI
- absent vomeronasal organ / MGI
- absent embryonic telencephalon / MGI
- abnormal visceral yolk sac endoderm morphology / MGI
- abnormal visceral yolk sac mesenchyme morphology / MGI
- absent orbitosphenoid bone / MGI
- abnormal temporal bone tympanic part morphology / MGI
- abnormal anterior head development / MGI
Literature references
- OTD/OTX2 functional equivalence depends on 5' and 3' UTR-mediated control of Otx2 mRNA for nucleo-cytoplasmic export and epiblast-restricted translation.;Acampora D, Boyl P P, Signore M, Martinez-Barbera J P, Ilengo C, Puelles E, Annino A, Reichert H, Corte G, Simeone A, ;2001;Development (Cambridge, England);128;4801-13; 11731460
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