C57BL/6N-Lrbatm1.1Kili/Ieg

Status

Available to order

EMMA IDEM:14924
International strain nameC57BL/6N-Lrbatm1.1Kili/Ieg
Alternative nameLrba-tm1.1Kili (official allele design.; MGI:5796558) lab.design.: Lrba2
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolLrbatm1.1Kili
Gene/Transgene symbolLrba

Information from provider

ProviderManfred Kilimann
Provider affiliationMolecular Neurobiology, MPI for Multidisciplinary Sciences
Genetic informationThis mouse line carries a null mutation in the Lrba gene (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. The A-C9 ES cell line was injected into blastocysts to generate a conditional mouse line, whose mating with Gt(ROSA)26Sor/SA-cre-pA cre recombinase 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 databases has been inconsistent. This deletion causes a frameshift after 149 of 2851 codons. 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 informationHomozygous:
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 historyMice were generated from an ES cell line of C57BL/6N origin and since then backcrossed to C57BL/6N mice for about 10 generations.
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
  • LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons.;Roussa Eleni, Juda Pavel, Laue Michael, Mai-Kolerus Oliver, Meyerhof Wolfgang, Sjöblom Markus, Nikolovska Katerina, Seidler Ursula, Kilimann Manfred W, ;2024;Scientific reports;14;10678; 38724551
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedyes

Information from EMMA

Archiving centreHelmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archivingheterozygous C57BL/6N

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • abnormal ear position / IMPC
  • increased circulating amylase level / IMPC
  • increased circulating calcium level / IMPC
  • absent pinna reflex / IMPC
  • increased blood urea nitrogen level / IMPC
  • increased circulating HDL cholesterol level / IMPC
  • decreased circulating chloride level / IMPC
  • increased circulating alkaline phosphatase level / IMPC
  • increased circulating total protein level / IMPC
  • increased circulating cholesterol level / IMPC
  • increased circulating creatinine level / IMPC
MGI phenotypes (gene matching)
  • increased length of allograft survival / MGI
  • increased regulatory T cell number / MGI
  • impaired natural killer cell mediated cytotoxicity / MGI
  • decreased susceptibility to graft versus host disease / MGI
  • abnormal NK cell physiology / MGI
  • increased myeloid cell number / MGI

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
  • LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons.;Roussa Eleni, Juda Pavel, Laue Michael, Mai-Kolerus Oliver, Meyerhof Wolfgang, Sjöblom Markus, Nikolovska Katerina, Seidler Ursula, Kilimann Manfred W, ;2024;Scientific reports;14;10678; 38724551

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).