C57BL/6N-Lrbatm1.1Kili/Ieg
| Status | Available to order |
| EMMA ID | EM:14924 |
| International strain name | C57BL/6N-Lrbatm1.1Kili/Ieg |
| Alternative name | Lrba |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Lrbatm1.1Kili, |
| Gene/Transgene symbol | Lrba |
Information from provider
| Provider | Manfred Kilimann |
| Provider affiliation | Molecular Neurobiology, MPI for Multidisciplinary Sciences |
| Genetic information | This mouse line carries a null mutation in the gene Lrba (LPS-responsive beige-like anchor protein). Lack of Lrba protein expression was confirmed by immunoblotting of brain and kidney. Mice were constructed by TaconicArtemis (Köln, Germany), through homologous recombination and screening of ES cell clones by Southern blot hybridization with four restriction enzymes and three probes. ES cell line A-C9 was injected into blastocysts to generate a conditional mouse line, whose mating with Gt(ROSA)26Sor (SA-cre-pA) deleter mice then generated a constitutive deletion of coding exon 3 (ATCTT…AATGG). The cre transgene was subsequently bred out. The first and last 5 nucleotides of exons and introns are specified here because exon numbering of the Lrba gene in the databases has been inconsistent. This deletion causes a frameshift after 149 of 2851codons. The deletion was verified in Lrba2 brain mRNA by RT-PCR between coding exons 1 and 5 with primers: 5prime-GTGCTGACGGGGTTGGTTGAA-3prime and 5prime-GGATCCATTCTAAGCCAGGTGTGA-3prime. For further details, see Kurtenbach et al. 2017 and the genotyping attachment to this submission. |
| Phenotypic information | Homozygous:Mice are viable and fertile and reach a normal age. They have been phenotyped by the German Mouse Clinic. Closer scrutiny detects impairments of olfaction, hearing and immune functions (all published).Heterozygous:None. |
| Breeding history | Mice were generated from an ES cell line of C57BL/6N origin, and since then backcrossed with C57BL/6N mice for about 10 generations. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | yes |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C57BL/6N |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Combined immunodeficiency due to LRBA deficiency / Orphanet_445018
Literature references
- The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.;Vogl Christian, Butola Tanvi, Haag Natja, Hausrat Torben J, Leitner Michael G, Moutschen Michel, Lefèbvre Philippe P, Speckmann Carsten, Garrett Lillian, Becker Lore, Fuchs Helmut, Hrabe de Angelis Martin, Nietzsche Sandor, Kessels Michael M, Oliver Dominik, Kneussel Matthias, Kilimann Manfred W, Strenzke Nicola, ;2017;EMBO reports;18;2015-2029; 28893864
- Immunological phenotype of the murine Lrba knockout.;Gámez-Díaz Laura, Neumann Julika, Jäger Fiona, Proietti Michele, Felber Felicitas, Soulas-Sprauel Pauline, Perruzza Lisa, Grassi Fabio, Kögl Tamara, Aichele Peter, Kilimann Manfred, Grimbacher Bodo, Jung Sophie, ;2017;Immunology and cell biology;95;789-802; 28652580
- The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.;Kurtenbach Stefan, Gießl Andreas, Strömberg Siv, Kremers Jan, Atorf Jenny, Rasche Sebastian, Neuhaus Eva M, Hervé Denis, Brandstätter Johann Helmut, Asan Esther, Hatt Hanns, Kilimann Manfred W, ;2017;Scientific reports;7;8409; 28814779