- reduced male fertility / MGI
- decreased litter size / MGI
- decreased circulating luteinizing hormone level / MGI
- decreased testis weight / MGI
- abnormal gonadotroph morphology / MGI
- decreased gonadotroph cell number / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal mesoderm development / MGI
- abnormal somite development / MGI
- abnormal somite shape / MGI
- decreased embryo size / MGI
- abnormal developmental patterning / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal neural tube morphology / MGI
- small heart / MGI
- absent pharyngeal arches / MGI
- embryonic growth retardation / MGI
- abnormal primitive node morphology / MGI
- abnormal amnion morphology / MGI
- abnormal hindbrain development / MGI
- absent nasal placodes / MGI
- absent optic vesicle / MGI
- prenatal lethality, complete penetrance / MGI
- absent midbrain / MGI
- absent forebrain / MGI
- rostral body truncation / MGI
- 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
STOCK Otx2tm1Pas/Cnrm
Status | Available to order |
EMMA ID | EM:05623 |
International strain name | STOCK Otx2tm1Pas/Cnrm |
Alternative name | Otx2-Lacz |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Otx2tm1Pas, |
Gene/Transgene symbol | Otx2 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Additional owner | Philippe Brulet, Unité d'Embryologie Moléculaire, Centre National de la Recherche Scientifique (CNRS), Institut Pasteur, Paris, France |
Genetic information | Part of the Otx2 gene, containing homeodomain, is replaced with lacZ coding sequence by homologous recombination. |
Phenotypic information | By 9.5 dpc, homozygous mutant embryos are characterized by the absence of forebrain and midbrain regions. From the early to midstreak stages, endomesodermal cells expressing lacZ fail to be properly localized anteriorly. |
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 regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation.;Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, Brûlet P, ;1995;Development (Cambridge, England);121;3279-90; 7588062
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