B6.Cg-Pxdnmhdakta048/Ieg

Status

Available to order

EMMA IDEM:12552
International strain nameB6.Cg-Pxdnmhdakta048/Ieg
Alternative namePxdn-Kta48-ENU-bl6
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolPxdnmhdakta048,
Gene/Transgene symbolPxdn

Information from provider

ProviderHelmut Fuchs
Provider affiliationInstitut of Experiments Genetics, Helmholtz Zentrum München
Additional ownerProf. Dr. Jochen Graw, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Developmental Genetics, Neuherberg/Germany
Genetic informationRecessive mutation in chromosome 12, gene Pxdn (T3816A; Cys1272X). Mutation generated by N-ethyl-N-nitrosourea (ENU).

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 informationHomozygous:
Severe anterior segment dysgenesis, microphthalmia.

Heterozygous:
None
Breeding historyImported from HMGU - Institute of Experimental Genetics.
References
  • Peroxidasin is essential for eye development in the mouse.;Yan Xiaohe, Sabrautzki Sibylle, Horsch Marion, Fuchs Helmut, Gailus-Durner Valerie, Beckers Johannes, Hrabě de Angelis Martin, Graw Jochen, ;2014;Human molecular genetics;23;5597-614; 24895407
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requirednot known
Immunocompromisednot known

Information from EMMA

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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • decreased cell proliferation / MGI
  • belly spot / MGI
  • kinked tail / MGI
  • microphthalmia / MGI
  • small lens / MGI
  • fused cornea and lens / MGI
  • corneal opacity / MGI
  • abnormal iris morphology / MGI
  • abnormal retina morphology / MGI
  • abnormal optic nerve morphology / MGI
  • eye inflammation / MGI
  • disorganized secondary lens fibers / MGI
  • abnormal lens fiber morphology / MGI
  • abnormal lens epithelium morphology / MGI
  • abnormal iridocorneal angle / MGI
  • abnormal anterior eye segment morphology / MGI
  • abnormal eye anterior chamber morphology / MGI
  • abnormal eye posterior chamber morphology / MGI
  • abnormal corneal stroma morphology / MGI
  • abnormal lens development / MGI
  • abnormal corneal epithelium morphology / MGI
  • vitreous body deposition / MGI
  • optic nerve hypoplasia / MGI
  • iris hypoplasia / MGI
  • decreased retinal ganglion cell number / MGI
  • ruptured lens capsule / MGI
  • retinal gliosis / MGI
  • increased corneal stroma thickness / MGI
  • abnormal retina inner limiting membrane morphology / MGI
  • absent eye anterior chamber / MGI
  • corneal-lenticular stalk / MGI
  • abnormal eye anterior chamber depth / MGI
  • abnormal extracellular matrix morphology / MGI
  • ciliary body hypoplasia / MGI

Literature references

  • Peroxidasin is essential for eye development in the mouse.;Yan Xiaohe, Sabrautzki Sibylle, Horsch Marion, Fuchs Helmut, Gailus-Durner Valerie, Beckers Johannes, Hrabě de Angelis Martin, Graw Jochen, ;2014;Human molecular genetics;23;5597-614; 24895407

Information on how we integrate external resources can be found here

Order

Availabilities

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

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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