IMPC phenotypes (gene matching)
C.129(B6)-Foxe3tm1Pca/Ieg
| Status | Available to order |
| EMMA ID | EM:07336 |
| International strain name | C.129(B6)-Foxe3tm1Pca/Ieg |
| Alternative name | FoxE3-ko |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Foxe3tm1Pca |
| Gene/Transgene symbol | Foxe3 |
Information from provider
| Provider | Peter Carlsson |
| Provider affiliation | Dept of Chemistry and Molecular Biology, University of Gothenburg |
| Genetic information | The forkhead box of Foxe3 (from NcoI to NotI) was replaced by a lacZ-PGK-neo resistance cassette. The construct was linearized at the end of the long arm and electroporated into R1 ES cells. Targeted cell clones were used to generate chimeras through injection into C57BL/6 blastocysts. A knock-out line was established following germline transmission of targeted ES cells and made congenic with the Foxe3 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 | Homozygotes for the null mutation display microphthalmia, fusion of the lens and cornea, other corneal and lens abnormalities, and may fail to open their eyes. |
| Breeding history | Brother x sister |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous BALB/c |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Peters anomaly / Orphanet_708
- Familial thoracic aortic aneurysm and aortic dissection / Orphanet_91387
- Congenital primary aphakia / Orphanet_83461
- Anterior segment developmental anomaly / Orphanet_88632
MGI phenotypes (allele matching)
- cataract / MGI
- small lens / MGI
- fused cornea and lens / MGI
- abnormal lens development / MGI
- abnormal iris morphology / MGI
- abnormal anterior eye segment morphology / MGI
- abnormal corneal stroma morphology / MGI
- abnormal corneal endothelium morphology / MGI
- iris hypoplasia / MGI
- anterior iris synechia / MGI
- abnormal cornea morphology / MGI
- abnormal iridocorneal angle / MGI
- absent trabecular meshwork / MGI
- abnormal ciliary body morphology / MGI
- abnormal canal of Schlemm morphology / MGI
- corneal vascularization / MGI
MGI phenotypes (gene matching)
- abnormal aorta morphology / MGI
- abnormal lens induction / MGI
- abnormal lens vesicle development / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- fused cornea and lens / MGI
- abnormal cornea morphology / MGI
- corneal opacity / MGI
- small pupils / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- disorganized secondary lens fibers / MGI
- abnormal pupillary reflex / MGI
- abnormal lens fiber morphology / MGI
- abnormal lens epithelium morphology / MGI
- nervous system phenotype / MGI
- abnormal aortic arch morphology / MGI
- abnormal iridocorneal angle / MGI
- absent trabecular meshwork / MGI
- absent corneal endothelium / MGI
- altered response of heart to induced stress / MGI
- abnormal ciliary body morphology / MGI
- eyelids fail to open / MGI
- abnormal anterior eye segment morphology / MGI
- abnormal canal of Schlemm morphology / MGI
- abnormal eye anterior chamber morphology / MGI
- abnormal corneal stroma morphology / MGI
- abnormal corneal endothelium morphology / MGI
- corneal vascularization / MGI
- abnormal lens development / MGI
- abnormal vascular smooth muscle physiology / MGI
- abnormal corneal epithelium morphology / MGI
- iris hypoplasia / MGI
- hematoma / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- abnormal ascending aorta morphology / MGI
- cortical cataracts / MGI
- anterior polar cataracts / MGI
- ascending aorta dilation / MGI
- corneal-lenticular stalk / MGI
- anterior iris synechia / MGI
- vacuolated lens / MGI
- decreased corneal epithelium thickness / MGI
Literature references
- Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage.;Blixt Asa, Landgren Henrik, Johansson Bengt R, Carlsson Peter, ;2007;Developmental biology;302;218-29; 17064680
- Persistent FoxE3 expression blocks cytoskeletal remodeling and organelle degradation during lens fiber differentiation.;Landgren Henrik, Blixt Asa, Carlsson Peter, ;2008;Investigative ophthalmology & visual science;49;4269-77; 18539941
- Pitx3 directly regulates Foxe3 during early lens development.;Ahmad Nafees, Aslam Muhammad, Muenster Doris, Horsch Marion, Khan Muhammad A, Carlsson Peter, Beckers Johannes, Graw Jochen, ;2013;The International journal of developmental biology;57;741-51; 24307298