C57BL/6JCya-Lrbaem1/Cya
Common Name:
Lrba-KO
Product ID:
S-KO-18813
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Lrba-KO
Strain ID
KOCMP-80877-Lrba-B6J-VB
Gene Name
Product ID
S-KO-18813
Gene Alias
D3Ertd775e; Lab300; Lba
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lrbaem1/Cya mice (Catalog S-KO-18813) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000107635
NCBI RefSeq
NM_030695
Target Region
Exon 3~11
Size of Effective Region
~20.4 kb
Detailed Document
Overview of Gene Research
LRBA, short for lipopolysaccharide-responsive and beige-like anchor protein, is a cytoplasmic protein ubiquitously distributed [3]. It has a scaffolding function in almost all its domains. LRBA is involved in regulating key immune and cellular processes. It is thought to regulate CTLA4, an inhibitory immunoreceptor, and is associated with immune-related pathways, playing a crucial role in maintaining immune homeostasis [1,2].
In Lrba knockout mice, defective AQP2 trafficking was observed, resulting in low urinary concentrating ability. This indicates that LRBA is essential for urinary concentration and body water homeostasis, as it promotes vasopressin-induced AQP2 trafficking, increasing water reabsorption from urine via AQP2 [4,5]. In humans, patients with LRBA deficiency show reduced levels of CTLA4 protein in FoxP3(+) regulatory and activated conventional T cells due to increased CTLA4 turnover, leading to immune dysregulation [1].
In conclusion, LRBA plays a vital role in immune regulation by controlling CTLA4 levels and in maintaining body water homeostasis through regulating AQP2 trafficking. Studies on Lrba knockout mouse models have provided insights into its functions in these processes, and understanding LRBA is crucial for treating diseases related to immune dysregulation and water balance disorders [1,4,5].
References：
1. Lo, Bernice, Zhang, Kejian, Lu, Wei, Lenardo, Michael J, Jordan, Michael B. . AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. In Science (New York, N.Y.), 349, 436-40. doi:10.1126/science.aaa1663. https://pubmed.ncbi.nlm.nih.gov/26206937/
2. Kardelen, Aslı Derya, Kara, Manolya, Güller, Dilek, Bas, Firdevs, Darendelıler, Feyza. 2020. LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency. In Hormones (Athens, Greece), 20, 389-394. doi:10.1007/s42000-020-00257-z. https://pubmed.ncbi.nlm.nih.gov/33155142/
3. Perez-Perez, D, Santos-Argumedo, L, Rodriguez-Alba, J C, Lopez-Herrera, G. . Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation. In Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 35, e14179. doi:10.1111/pai.14179. https://pubmed.ncbi.nlm.nih.gov/38923448/
4. Yanagawa, Hideki, Hara, Yu, Ando, Fumiaki, Tokunaga, Fuminori, Uchida, Shinichi. 2023. LRBA signalosomes activate vasopressin-induced AQP2 trafficking at recycling endosomes. In The Journal of physiology, 601, 5437-5451. doi:10.1113/JP285188. https://pubmed.ncbi.nlm.nih.gov/37860942/
5. Hara, Yu, Ando, Fumiaki, Oikawa, Daisuke, Tokunaga, Fuminori, Uchida, Shinichi. 2022. LRBA is essential for urinary concentration and body water homeostasis. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2202125119. doi:10.1073/pnas.2202125119. https://pubmed.ncbi.nlm.nih.gov/35862451/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen