C3.Cg-Pax6Sey-Neu/Ieg

Status

Available to order

EMMA IDEM:01331
International strain nameC3.Cg-Pax6Sey-Neu/Ieg
Alternative namePax6 / ENU2
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolPax6Sey-Neu,
Gene/Transgene symbolPax6

Information from provider

ProviderJack Favor
Provider affiliationInstitute of Human Genetics, Helmholtz Zentrum Muenchen
Genetic informationA G to T transversion in intron 10 at the +1 position of a splice donor site.

Disclaimer - Special restrictions:

1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols.
2) Some lines showed low penetrance of the phenotype.
3) Only sperm available. Rederivation service can not be offered.
4) EMMA quality control standards may not apply for these strains.
5) EMMA has not verified the breeding performance and the genetic background of the strains.

The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt.
Phenotypic informationMicrophthalmia, anterior pole cataract, iris anomaly, hypomorph.
References
  • Mouse small eye results from mutations in a paired-like homeobox-containing gene.;Hill R E, Favor J, Hogan B L, Ton C C, Saunders G F, Hanson I M, Prosser J, Jordan T, Hastie N D, van Heyningen V, ;1991;Nature;354;522-5; 1684639

Information from EMMA

Archiving centreHelmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal eye development / MGI
  • abnormal lens development / MGI
  • abnormal lens vesicle development / MGI
  • microphthalmia / MGI
  • abnormal cornea morphology / MGI
  • abnormal cornea anterior stroma morphology / MGI
  • abnormal eye anterior chamber morphology / MGI
  • abnormal corneal stroma morphology / MGI
  • corneal vascularization / MGI
  • abnormal corneal epithelium morphology / MGI
  • iris hypoplasia / MGI
  • abnormal Bowman membrane / MGI
  • anterior iris synechia / MGI
  • abnormal lens morphology / MGI
  • abnormal craniofacial bone morphology / MGI
  • abnormal nasal capsule morphology / MGI
  • abnormal forebrain morphology / MGI
  • abnormal brain commissure morphology / MGI
  • abnormal optic vesicle formation / MGI
  • abnormal submandibular gland morphology / MGI
  • decreased circulating growth hormone level / MGI
  • abnormal olfactory nerve morphology / MGI
  • abnormal olfactory epithelium morphology / MGI
  • submandibular gland hypoplasia / MGI
  • neonatal lethality, complete penetrance / MGI
  • abnormal hormone level / MGI
  • abnormal pallium development / MGI
  • absent pancreatic beta cells / MGI
  • absent pancreatic alpha cells / MGI
  • abnormal cerebellum morphology / MGI
  • abnormal cerebellum vermis morphology / MGI
  • abnormal cerebellum external granule cell layer morphology / MGI
  • ectopic Purkinje cell / MGI
  • abnormal lens induction / MGI
  • abnormal cerebellar granule cell morphology / MGI
  • abnormal endocrine pancreas development / MGI
  • abnormal optic cup morphology / MGI

Literature references

  • Mouse small eye results from mutations in a paired-like homeobox-containing gene.;Hill R E, Favor J, Hogan B L, Ton C C, Saunders G F, Hanson I M, Prosser J, Jordan T, Hastie N D, van Heyningen V, ;1991;Nature;354;522-5; 1684639

Order

Availabilities

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

  • Frozen sperm. 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).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
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.

EMMA conditions
Legally binding conditions for the transfer

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