B6N.129P2-LrbaGt(XE315)Byg/Ieg

Status

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EMMA IDEM:14925
Citation informationRRID:IMSR_EM:14925 

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International strain nameB6N.129P2-LrbaGt(XE315)Byg/Ieg
Alternative nameLrba-Gt(XE315)Byg (official allele design., MGI:4124772) lab. design.: Lrba/gt (gene-trap hypomorph)
Strain typeGene-trap
Allele/Transgene symbolLrbaGt(XE315)Byg
Gene/Transgene symbolLrba

Information from provider

ProviderManfred Kilimann
Provider affiliationMolecular Neurobiology, MPI for Multidisciplinary Sciences
Genetic informationThis mouse line is derived from the XE315 gene trap ES cell line, generated by BayGenomics. The gene trap vector pGT21xf had inserted into intron 38 (7693 nt-long; gtcag…ttcag) of the Lrba gene. The interval around the vector was amplified from ES cell DNA and sequenced, localizing the integration site 750 nt downstream of exon 38 (125 nt-long; TCGTC…ACATG). The first 1210 nt of the gene trap vector had been lost during integration. The sequence loss was upstream of the splice acceptor site, but gene-trap efficiency was apparently compromised as the Lrba-gt mice retained residual expression levels of normal-sized LRBA of about 25% according to immunoblot analysis of brain and kidney extracts.
Phenotypic informationHomozygous:
Mice appear to be of normal fitness and are fully fertile. Also the phenotyping screen of the German Mouse Clinic detected no anomalies. The main utility of these hypomorphic mice (expression of full-length Lrba protein at ~25% abundance of wild-type) lies in detecting the histological and developmental pattern of Lrba expression by beta-galactosidase histochemistry.

Heterozygous:
No phenotype. Beta-galactosidase expression under the Lrba promoter.
Breeding historyBackcrossed to C57BL/6N for more than 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
  • 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
Immunocompromisednot known

Information from EMMA

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

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
  • 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

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