IMPC phenotypes (gene matching)
C57BL/6N-Nbeaem1Kili/Ieg
| Status | Available to order |
| EMMA ID | EM:14919 |
| Citation information | RRID:IMSR_EM:14919 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/6N-Nbeaem1Kili/Ieg |
| Alternative name | Nbea-em1Kili (official allele design.; MGI:7262988) lab. design.: Nbea-KI (L1085A) |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Nbeaem1Kili |
| Gene/Transgene symbol | Nbea |
Information from provider
| Provider | Manfred Kilimann |
| Provider affiliation | Molecular Neurobiology, Max-Planck-Institute für Interdisciplinary Sciences |
| Genetic information | This mutant mouse line carries a single amino acid replacement in exon 22 (amino acid 1085) of its endogenous neurobeachin gene (Nbea). This amino acid replacement abolishes the ability of the Nbea protein to bind the regulatory subunit of protein kinase A, i.e. it abolishes Nbea's A-kinase anchoring protein (AKAP) activity. Mutagenesis was performed at Cyagen by CRISPR/Cas-mediated genome engineering. The L1085A (TTG to GCG) mutation was introduced into exon 22 by homology-directed repair. An additional silent mutation (GCC to GCG) was introduced nearby to prevent the binding and re-cutting of the sequence by gRNA after homology-directed repair. |
| Phenotypic information | Homozygous:No phenotype detected to date. The L1085A missense mutation was introduced to investigate the biological role of the protein kinase A-binding propensity of Nbea (AKAP activity). As Nbea's AKAP activity is conserved between Drosophila and mammals, a biological significance is likely, and is expected primarily in the context of nervous system development and/or plasticity. However, no phenotype has been detected to date in the standard phenotyping screen of the German Mouse Clinic, or in additional behavioral and electrophysiological tests.Heterozygous:No phenotype. |
| Breeding history | The mutation was generated in C57BL/6N mice and mice were subsequently backcrossed to C57BL/6N for 7 generations. |
| References | None available |
| 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 |
| Animals used for archiving | heterozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469