- abnormal craniofacial morphology / IMPC
- microphthalmia / IMPC
- anophthalmia / IMPC
- abnormal liver morphology / IMPC
- abnormal placenta morphology / IMPC
- cleft palate / IMPC
- hyperactivity / IMPC
- corneal vascularization / IMPC
- abnormal eye morphology / IMPC
- cataract / IMPC
- preweaning lethality, complete penetrance / IMPC
- developmental dysplasia / IMPC
- corneal opacity / IMPC
- facial cleft / IMPC
- abnormal placenta vasculature / IMPC
- abnormal brain morphology / IMPC
- small liver / IMPC
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 |
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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
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- 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
MGI phenotypes (gene matching)
- small ears / MGI
- lowered ear position / MGI
- abnormal nasal bone morphology / MGI
- belly spot / MGI
- abnormal craniofacial morphology / MGI
- short snout / MGI
- absent snout / MGI
- abnormal forebrain morphology / MGI
- telencephalon hypoplasia / MGI
- abnormal telencephalon morphology / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal diencephalon morphology / MGI
- abnormal cerebellum morphology / MGI
- abnormal cerebellum vermis morphology / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- ectopic Purkinje cell / MGI
- abnormal brain development / MGI
- exencephaly / MGI
- abnormal telencephalon development / MGI
- decreased body length / MGI
- decreased body size / MGI
- abnormal eye development / MGI
- abnormal lens induction / MGI
- abnormal lens vesicle development / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- fused cornea and lens / MGI
- abnormal cornea morphology / MGI
- corneal opacity / MGI
- abnormal pupil morphology / MGI
- irregularly shaped pupil / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- abnormal optic nerve morphology / MGI
- abnormal lacrimal gland morphology / MGI
- decreased embryo size / MGI
- reduced female fertility / MGI
- abnormal pancreas morphology / MGI
- respiratory failure / MGI
- blindness / MGI
- neoplasm / MGI
- increased tumor incidence / MGI
- premature death / MGI
- abnormal eye morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal brain commissure morphology / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal nose morphology / MGI
- abnormal nasal cavity morphology / MGI
- increased intestinal adenoma incidence / MGI
- mydriasis / MGI
- abnormal eye size / MGI
- abnormal vitreous body morphology / MGI
- abnormal lens fiber morphology / MGI
- white spotting / MGI
- aphakia / MGI
- abnormal cornea anterior stroma morphology / MGI
- abnormal respiratory system development / MGI
- abnormal forebrain development / MGI
- abnormal lens epithelium morphology / MGI
- abnormal optic vesicle formation / MGI
- absent olfactory bulb / MGI
- nervous system phenotype / MGI
- abnormal synaptic transmission / MGI
- abnormal retinal photoreceptor layer morphology / MGI
- abnormal facial morphology / MGI
- abnormal submandibular gland morphology / MGI
- abnormal craniofacial development / MGI
- abnormal hormone level / MGI
- abnormal cerebellar granule cell morphology / MGI
- abnormal spinal cord interneuron morphology / MGI
- abnormal pallium development / MGI
- decreased fetal size / MGI
- abnormal iridocorneal angle / MGI
- abnormal optic cup morphology / MGI
- abnormal embryonic/fetal subventricular zone morphology / MGI
- abnormal postnatal subventricular zone morphology / MGI
- abnormal maxillary shelf morphology / MGI
- abnormal nasal capsule morphology / MGI
- increased susceptibility to induced pancreatitis / MGI
- abnormal neuron physiology / MGI
- abnormal neuronal precursor proliferation / MGI
- decreased circulating growth hormone level / MGI
- decreased adrenocorticotropin level / MGI
- decreased eye pigmentation / MGI
- abnormal anterior eye segment morphology / MGI
- abnormal retinal pigment epithelium morphology / MGI
- abnormal eye anterior chamber morphology / MGI
- abnormal olfactory nerve morphology / MGI
- abnormal retinal ganglion layer morphology / MGI
- aniridia / MGI
- coloboma / MGI
- impaired glucose tolerance / MGI
- abnormal corneal stroma morphology / MGI
- abnormal corneal endothelium morphology / MGI
- renal/urinary system phenotype / MGI
- craniofacial phenotype / MGI
- vision/eye phenotype / MGI
- hypopigmentation / MGI
- corneal vascularization / MGI
- abnormal lens development / MGI
- abnormal corneal epithelium morphology / MGI
- iris hypoplasia / MGI
- thin cerebral cortex / MGI
- absent nasal placodes / MGI
- abnormal cortical plate morphology / MGI
- thin cortical plate / MGI
- abnormal cortical ventricular zone morphology / MGI
- abnormal Bowman membrane / MGI
- abnormal olfactory epithelium morphology / MGI
- absent pancreatic beta cells / MGI
- absent pancreatic alpha cells / MGI
- disorganized pancreatic islets / MGI
- delayed eyelid fusion / MGI
- submandibular gland hypoplasia / MGI
- abnormal pretectal region morphology / MGI
- decreased birth body size / MGI
- absent lens vesicle / MGI
- abnormal retinal development / MGI
- eye opacity / MGI
- abnormal lateral nasal prominence morphology / MGI
- abnormal medial nasal prominence morphology / MGI
- abnormal neuron differentiation / MGI
- anterior polar cataracts / MGI
- increased alimentary system tumor incidence / MGI
- increased stomach tumor incidence / MGI
- corneal-lenticular stalk / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality, incomplete penetrance / MGI
- embryonic lethality before implantation, incomplete penetrance / MGI
- anterior iris synechia / MGI
- abnormal endocrine pancreas development / MGI
- abnormal optic placode morphology / MGI
- absent external nares / MGI
- small thalamus / MGI
- decreased corneal epithelium thickness / MGI
- absent nasal pit / MGI
- abnormal face development / MGI
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
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