IMPC phenotypes (gene matching)
B6.Cg-Pxdnmhdakta048/Ieg
| Status | Available to order |
| EMMA ID | EM:12552 |
| International strain name | B6.Cg-Pxdnmhdakta048/Ieg |
| Alternative name | Pxdn-Kta48-ENU-bl6 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pxdnmhdakta048 |
| Gene/Transgene symbol | Pxdn |
Information from provider
| Provider | Helmut Fuchs |
| Provider affiliation | Institut of Experiments Genetics, Helmholtz Zentrum München |
| Additional owner | Prof. Dr. Jochen Graw, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Developmental Genetics, Neuherberg/Germany |
| Genetic information | Recessive 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 information | Homozygous:Severe anterior segment dysgenesis, microphthalmia.Heterozygous:None |
| Breeding history | Imported from HMGU - Institute of Experimental Genetics. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital cataract microcornea with corneal opacity / Orphanet_289499
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
MGI phenotypes (gene 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
- 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
- decreased corneal epithelium thickness / 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