IMPC phenotypes (gene matching)
B6(CBA)-Mast2em1Dak/Ieg
| Status | Under development - register interest |
| EMMA ID | EM:16178 |
| Citation information | RRID:IMSR_EM:16178 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 | B6(CBA)-Mast2em1Dak/Ieg |
| Alternative name | MAST2-L1196W, MAST2-L1196Wfs*92 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Mast2 (MGI:894676) chr4:g.116166219A>G p.R1197= (synonymous in mutant), Mast2 (MGI:894676) chr4:g.116166221A>C p.R1197= (synonymous in mutant), Mast2 (MGI:894676) chr4:g.116166226C>A p.P1195=, Mast2Mast2 (MGI:894676) chr4:g.116166219AG p.R1197= (synonymous in mutant), Mast2 (MGI:894676) chr4:g.116166221Aem1Dak |
| Gene/Transgene symbol | Mast2, Mast2, Mast2, Mast2, Mast2 |
Information from provider
| Provider | David Keays |
| Provider affiliation | Biologie II, Ludwig-Maximilians-University Munich |
| Genetic information | Knock-in frameshift mutation in the Mast2 gene (L1196Wfs*92) introduced via CRISPR/Cas9. The mutation is a 1 bp deletion, causing a frameshift at position L1196 that converts L to W, followed by an altered 92-amino acid sequence and then a premature stop. Four additional synonymous substitutions were introduced as part of the CRISPR strategy to facilitate genotyping via restriction digestion. The mutation details are: Mast2, chr4:g.116166224delT p.L1196Wfs*92; Mast2, chr4:g.116166226C>A p.P1195= ; Mast2, chr4:g.116166219A>G p.R1197= (synonymous in mutant); Mast2, chr4:g.116166221A>C p.R1197= (synonymous in mutant); Mast2, chr4:g.116166216A>G p.T1198= (synonymous in mutant). |
| Phenotypic information | Homozygous:Homozygous mice do not display husbandry or breeding issues. Behavioural phenotype: - Seizure threshold: hypersensitivity to Pentylenetetrazol (PTZ), reaching Racine scores of 4-5 after a single dose compared to Racine 0-1 in wildtype litter-matched controls. We have not observed spontaneous tonic-clonic seizures. - Acoustic startle response: increased acoustic startle response at sound stimuli >90dB - Slight tendency for hyperactivity observable by trend to higher movement speed in open field test, slightly higher latency to fall in Rotarod, trend towards more total arm entries in Y-maze - Locomotor activity: normal center time & rearing - Motor coordination: Rotarod normal - Working memory: Y-maze (Spontaneous alternations) normal - Marble burying assay: normal - Social discrimination: recognition index normal; trend towards reduced time interacting with the familiar mouse in the sample phase in male mutant mice - Prepulse inhibition normal - SHIRPA: normal Histology - Brain: no gross neuroanatomical malformations; slight reduction in cortical thickness; cortical layering appears normal - Testis: higher degree of scattered tubular degeneration in testes of homozygous mutant mice; not considered adverse, as epididymides contained sperm - Eye morphology: normal (fundus, main blood vessels, retinal layers, cornea, lens) - Clinical chemistry & hematology: no indication of organ disfunction; signs of altered erythrocyte maturation (differences in RBCs, RDW, MCH, iron) and slightly elevated platelets in femalesHeterozygous:Heterozygous mice exhibit a similar phenotype to the homozygous, with a Racine score of 4-5 after PTZ administration but better recovery after PTZ. All other phenotypes are similar to the homozygous mice but at a lesser extent. |
| Breeding history | The mutation was introduced on a B6CBAF1 hybrid background. The line was backcrossed >10X with C57BL/6J animals. The top 10 computationally predicted potential off-target effects of the CRISPR strategy were sequenced to ensure no off-target effects are present in the experimental animals. |
| 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 | homozygous C57BL/6J males |