- preweaning lethality, incomplete penetrance / IMPC
- embryonic lethality prior to tooth bud stage / IMPC
- enlarged uterus / IMPC
- decreased mean corpuscular hemoglobin / IMPC
- small superior vagus ganglion / IMPC
- hydrometra / IMPC
- decreased mean corpuscular volume / IMPC
- embryonic lethality prior to organogenesis / IMPC
- increased circulating alkaline phosphatase level / IMPC
B6N;129(B6J)-Dnm2tm2.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16063 |
| Citation information | RRID:IMSR_EM:16063 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 | B6N;129(B6J)-Dnm2tm2.1Ics/Ics |
| Alternative name | Dnm2tm2.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Dnm2tm2.1Ics |
| Gene/Transgene symbol | Dnm2 |
Information from provider
| Provider | Lisa Tinelli |
| Provider affiliation | Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology |
| Genetic information | Exon 16 (Dnm2-201, GRCm39) was replaced with one containing an A-to-G nucleotide change resulting in a lysine to glutamic acid substitution at amino acid 562 (p.K562E). In addition, protamine, cre recombinase and selection marker cassettes flanked by loxP sites were inserted in intron 16-17 which were removed via cre-mediated recombination. The K562E mutation is associated with dominant-intermediate Charcot-Marie-Tooth type B disease. |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | Line backcrossed in C57BL/6NTac. Current background: C57BL/6J 6.25%, 129/SvPas 25%, C57BL/6NTac 68.75% |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
IMPC phenotypes (gene matching)
Literature references
- Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.;Pereira Jorge A, Gerber Joanne, Ghidinelli Monica, Gerber Daniel, Tortola Luigi, Ommer Andrea, Bachofner Sven, Santarella Francesco, Tinelli Elisa, Lin Shuo, Rüegg Markus A, Kopf Manfred, Toyka Klaus V, Suter Ueli, ;2020;Human molecular genetics;29;1253-1273; 32129442
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).
