- fused cornea and lens / MGI
- abnormal iridocorneal angle / MGI
- abnormal eye anterior chamber morphology / MGI
- anterior iris synechia / MGI
- anophthalmia / MGI
- absent olfactory bulb / MGI
- absent pancreatic alpha cells / MGI
- disorganized pancreatic islets / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal spinal cord interneuron morphology / MGI
- abnormal neuron physiology / MGI
STOCK Pax6tm1Pgr/Cnrm
Status | Available to order |
EMMA ID | EM:00998 |
International strain name | STOCK Pax6tm1Pgr/Cnrm |
Alternative name | RLA (Retinal enhancer-LAcZ) |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Pax6tm1Pgr, |
Gene/Transgene symbol | Pax6 |
Information from provider
Provider | Peter Gruss |
Provider affiliation | Max Planck Inst. Biophysical Chemistry |
Genetic information | Alpha-tau lacZ is driven by a Pax6 retinal enhancer: beta-galactosidase activity is found in retinal ganglion cells, their axons, superior colliculus and lateral geniculate nucleus. |
Phenotypic information | Alteration of establishment of naso-temporal and dorsal characteristics of the optic vesicle. |
References |
|
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
- Isolated aniridia / Orphanet_250923
- Autosomal dominant keratitis / Orphanet_2334
- Coloboma of eyelid / Orphanet_98946
- Coloboma of optic disc / Orphanet_98947
- Peters anomaly / Orphanet_708
- Coloboma of iris / Orphanet_98944
- Coloboma of macula / Orphanet_98945
- Coloboma of choroid and retina / Orphanet_98942
- Isolated optic nerve hypoplasia/aplasia / Orphanet_137902
- Coloboma of eye lens / Orphanet_98943
- Foveal hypoplasia-presenile cataract syndrome / Orphanet_2253
- Aniridia-cerebellar ataxia-intellectual disability syndrome / Orphanet_1065
MGI phenotypes (allele matching)
Literature references
- Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle.;Bäumer Nicole, Marquardt Till, Stoykova Anastassia, Ashery-Padan Ruth, Chowdhury Kamal, Gruss Peter, ;2002;Development (Cambridge, England);129;4535-45; 12223410
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).