IMPC phenotypes (gene matching)
C57BL/6-Mast3em1Dak/Ieg
| Status | Under development - register interest |
| EMMA ID | EM:16101 |
| Citation information | RRID:IMSR_EM:16101 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6-Mast3em1Dak/Ieg |
| Alternative name | Mast3 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Mast3em1Dak |
| Gene/Transgene symbol | Mast3 |
Information from provider
| Provider | David Keays |
| Provider affiliation | Faculty of Biology, Division of Neurobiology, LMU Munich |
| Additional owner | Dr. Florian Giesert, Group Leader, Gene Editing, Helmholtz Munich, Germany. |
| Genetic information | CRISPR/Cas9-mediated knock-in point mutation in Mast3 resulting in a glycine-to-serine substitution at amino acid position 516 (p.Gly516Ser). CRISPR/Cas9 genome editing using guide RNA targeting Mast3 and a donor template introducing the G516S substitution (induced knock-in point mutation). Cas9 was delivered by electroporation in the form of a ribonucleoprotein complex. For this, we obtained Cas9 protein commercially from IDT (Integrated DNA Technologies). |
| Phenotypic information | Homozygous:Animals are viable, yet present with epileptic seizures in some cases (no human patients reported with homozygous mutation so far). Their locomotion behavior seems not affected (further tests required).Heterozygous:Animals are viable, yet present with epileptic seizures, mostly tonic, in some cases. Human patients with heterozygous mutations on the same allele present with seizures and autism related phenotypes. Their locomotion behavior seems not affected (further tests required). |
| Breeding history | Animals current in generation F7. C57BL/6N background. Breedings of het x het animals are efficient and with minimal problems. Litter size most commonly between 5 and 10 pups, with fewer exceptions, e.g. only 2/3 live pups when cannibalism occurs. The rearing losses are almost non-existent. If the pups make it alive on the first days without cannibalism, then the whole litter is kept intact. |
| References | None available |
| 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 | heterozygous C57BL/6N males |