STOCK Pax6tm1Pgr/Cnrm

Status

Available to order

EMMA IDEM:00998
International strain nameSTOCK Pax6tm1Pgr/Cnrm
Alternative nameRLA (Retinal enhancer-LAcZ)
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolPax6tm1Pgr
Gene/Transgene symbolPax6

Information from provider

ProviderPeter Gruss
Provider affiliationMax Planck Inst. Biophysical Chemistry
Genetic informationAlpha-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 informationAlteration of establishment of naso-temporal and dorsal characteristics of the optic vesicle.
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

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • 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
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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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Example health report
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Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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