MGI phenotypes (allele matching)
C57BL/6J-Lim2Aca47/Ieg
| Status | Available to order |
| EMMA ID | EM:05135 |
| International strain name | C57BL/6J-Lim2Aca47/Ieg |
| Alternative name | Aca47 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Lim2Aca47 |
| Gene/Transgene symbol | Lim2 |
Information from provider
| Provider | Oliver Puk |
| Provider affiliation | Institut fuer Entwicklungsgenetik, AG Graw, Helmholtz Zentrum Muenchen |
| Genetic information | ENU induced Lim2 C51R missense mutation. 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 | Aca47 is characterized by microphthalmia and microphakia with congenital cataracts. |
| Breeding history | Incross, 10 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C57BL/6J, wild-type C57BL/6J |
| Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Total early-onset cataract / Orphanet_98994
MGI phenotypes (gene matching)
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- disorganized secondary lens fibers / MGI
- abnormal eye size / MGI
- abnormal vitreous body morphology / MGI
- abnormal lens fiber morphology / MGI
- vision/eye phenotype / MGI
- ruptured lens capsule / MGI
- nuclear cataracts / MGI
- total cataracts / MGI
- vacuolated lens / MGI
Literature references
- Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.;Puk Oliver, Ahmad Nafees, Wagner Sibylle, de Angelis Martin Hrabé, Graw Jochen, ;2011;Molecular vision;17;1164-71; 21617753