| Status | Available to order |
| EMMA ID | EM:01641 |
| International strain name | C3(Cg)-Pitx3eyl/Ieg |
| Alternative name | EYL |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Pitx3eyl, |
| Gene/Transgene symbol | Pitx3 |
| Provider | Michael Rosemann |
| Provider affiliation | Institute of Pathology, GSF - National Research Center for Environment and Health |
| Genetic information | Guanosine insertion at position 416 (416InsG) in exon 4 causing a frameshift 19 AA distal of the homebox; complete absence of Otp/Aristaless/Rax (OAR) transactivation domain. 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 | No induction of eye-lens at placode stage. |
| Breeding history | Arose during a C3H/102 congenic inbreeding. |
| References |
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| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
