C57BL/6NCya-Tbc1d8bem1/Cya
Common Name
Tbc1d8b-KO
Product ID
S-KO-07613
Backgroud
C57BL/6NCya
Strain ID
KOCMP-245638-Tbc1d8b-B6N-VA
Status
When using this mouse strain in a publication, please cite “Tbc1d8b-KO Mouse (Catalog S-KO-07613) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Tbc1d8b-KO
Strain ID
KOCMP-245638-Tbc1d8b-B6N-VA
Gene Name
Product ID
S-KO-07613
Gene Alias
4921505D17Rik, 9030605E16Rik
Background
C57BL/6NCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr X
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000096313
NCBI RefSeq
NM_001081499
Target Region
Exon 2~3
Size of Effective Region
~3.7 kb
Overview of Gene Research
Tbc1d8b, a GTPase-activating protein, is involved in endocytic and recycling pathways, likely through its interaction with RAB11, a key protein in vesicular recycling [1,2,3]. It also interacts with nephrin, a podocyte slit diaphragm protein, and plays a role in endosomal maturation and degradation [3]. Its functions are crucial for podocyte biology and are evolutionarily conserved [3].
Mutations in Tbc1d8b have been identified as monogenic causes of steroid-resistant nephrotic syndrome (SRNS) [1,2]. In zebrafish, knockdown and knockout of the Tbc1d8b ortholog induced proteinuria, a phenotype rescued by human Tbc1d8b mRNA but not by mutated mRNAs, indicating its importance in maintaining normal renal function [2]. In Drosophila, deletion of Tbc1d8b led to nephrin mislocalization, similar to the phenotype in patients with isolated nephrotic syndrome [3].
In conclusion, Tbc1d8b is essential for nephrin trafficking, with its loss-of-function mutations contributing to the pathogenesis of nephrotic syndrome. Studies using gene knockout models in zebrafish and Drosophila have been instrumental in revealing its role in maintaining normal podocyte function and renal health [2,3].
References:
1. Kampf, Lina L, Schneider, Ronen, Gerstner, Lea, Hildebrandt, Friedhelm, Hermle, Tobias. 2019. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. In Journal of the American Society of Nephrology : JASN, 30, 2338-2353. doi:10.1681/ASN.2019040414. https://pubmed.ncbi.nlm.nih.gov/31732614/
2. Dorval, Guillaume, Kuzmuk, Valeryia, Gribouval, Olivier, Saleem, Moin A, Antignac, Corinne. 2019. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. In American journal of human genetics, 104, 348-355. doi:10.1016/j.ajhg.2018.12.016. https://pubmed.ncbi.nlm.nih.gov/30661770/
3. Milosavljevic, Julian, Lempicki, Camille, Lang, Konrad, Pollak, Martin R, Hermle, Tobias. 2022. Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila. In Journal of the American Society of Nephrology : JASN, 33, 2174-2193. doi:10.1681/ASN.2022030275. https://pubmed.ncbi.nlm.nih.gov/36137753/
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
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