IMPC phenotypes (gene matching)
C3HeB/FeJ-H3c14Aey69 Gja8Aey69/Ieg
| Status | Available to order |
| EMMA ID | EM:12603 |
| International strain name | C3HeB/FeJ-H3c14Aey69 Gja8Aey69/Ieg |
| Alternative name | Hist2H3c1-Ile120Leu; Alias: Aey69 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | H3c14Aey69, Gja8Aey69 |
| Gene/Transgene symbol | H3c14, Gja8 |
Information from provider
| Provider | Martin Hrabé de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Center Munich |
| Genetic information | Linkage was demonstrated to mouse chromosome 3 between the markers D3Mit188 and D3Mit11. Sequencing revealed a 358 A->C mutation (Ile120Leu) in the Hist2h3c1 gene and a 71 T->C (Val24Ala) mutation in the Gja8 gene. The mutation in the histone gene is considered to be causative for the phenotype. 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:Microphthalmia, degeneration of the lens vesicle, hyperproliferation of the retinaHeterozygous:Microphthalmia, degeneration of the lens vesicle, hyperproliferation of the retina |
| Breeding history | The heterozygous mutant was identified in 2007 and kept as a homozygous line by brother x sister matings until 2019. |
| 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 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Pulverulent cataract / Orphanet_98984
- Isolated congenital sclerocornea / Orphanet_91490
- Cataract-microcornea syndrome / Orphanet_1377
- Early-onset sutural cataract / Orphanet_98985
- Total early-onset cataract / Orphanet_98994
- Early-onset nuclear cataract / Orphanet_98991
MGI phenotypes (gene matching)
- abnormal eye development / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- abnormal eye morphology / MGI
- abnormal lens fiber morphology / MGI
- abnormal eye physiology / MGI
- vision/eye phenotype / MGI
- abnormal lens development / MGI
- abnormal eye electrophysiology / MGI
- ruptured lens capsule / MGI
- nuclear cataracts / MGI
- total cataracts / MGI
- vacuolated lens / MGI
Literature references
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.;Vetrivel Sharmilee, Tiso Natascia, Kügler Andrea, Irmler Martin, Horsch Marion, Beckers Johannes, Hladik Daniela, Giesert Florian, Gailus-Durner Valerie, Fuchs Helmut, Sabrautzki Sibylle, Hrabě de Angelis Martin, Graw Jochen, ;2019;Experimental eye research;188;107632; 30991053