C3HeB/FeJ-Pxdn^mhdakta048/Ieg

Status	Available to order
EMMA ID	EM:01274
International strain name	C3HeB/FeJ-Pxdn^mhdakta048/Ieg
Alternative name	KTA048
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pxdn^mhdakta048,
Gene/Transgene symbol	Pxdn

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	extremities: tail dysmorphology, coat: color anomalies, eye: corneal or lens defect 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	extremities: tail dysmorphology, coat: color anomalies, eye: corneal or lens defect
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017 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 Peroxidasin contributes to lung host defense by direct binding and killing of gram-negative bacteria.;Shi Ruizheng, Cao Zehong, Li Hong, Graw Jochen, Zhang Guogang, Thannickal Victor J, Cheng Guangjie, ;2018;PLoS pathogens;14;e1007026; 29775486

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

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
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
Peroxidasin contributes to lung host defense by direct binding and killing of gram-negative bacteria.;Shi Ruizheng, Cao Zehong, Li Hong, Graw Jochen, Zhang Guogang, Thannickal Victor J, Cheng Guangjie, ;2018;PLoS pathogens;14;e1007026; 29775486
Mapping brain gene coexpression in daytime transcriptomes unveils diurnal molecular networks and deciphers perturbation gene signatures.;Wang Nan, Langfelder Peter, Stricos Matthew, Ramanathan Lalini, Richman Jeffrey B, Vaca Raymond, Plascencia Mary, Gu Xiaofeng, Zhang Shasha, Tamai T Katherine, Zhang Liguo, Gao Fuying, Ouk Koliane, Lu Xiang, Ivanov Leonid V, Vogt Thomas F, Lu Qing Richard, Morton A Jennifer, Colwell Christopher S, Aaronson Jeffrey S, Rosinski Jim, Horvath Steve, Yang X William, ;2022;Neuron;110;3318-3338.e9; 36265442

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.

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

C3HeB/FeJ-Pxdnmhdakta048/Ieg