C57BL/6JCya-Umodem1/Cya
Common Name:
Umod-KO
Product ID:
S-KO-18654
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Umod-KO
Strain ID
KOCMP-22242-Umod-B6J-VA
Gene Name
Product ID
S-KO-18654
Gene Alias
THP; Urehd1; urehr4
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Umodem1/Cya mice (Catalog S-KO-18654) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033263
NCBI RefSeq
NM_009470
Target Region
Exon 2~4
Size of Effective Region
~2.5 kb
Detailed Document
Overview of Gene Research
Umod, which codes for uromodulin (also known as Tamm-Horsfall protein), is a kidney-specific gene. Uromodulin is the most abundant protein excreted in normal urine and has specific biochemical properties that mediate important functions in the kidney and urine. It is involved in various kidney-related biological processes and its genetic variation is relevant to the pathogenesis and prognosis of kidney diseases [1,3].
Mutations in Umod are the major cause of autosomal dominant tubulointerstitial kidney disease (ADTKD), which leads to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Different types of Umod mutations exist, from rare large-effect variants causing ADTKD to common low-impact variants associated with kidney function and CKD risk in the general population, and even intermediate-effect variants. For example, the p.Thr62Pro missense variant in Umod shows incomplete penetrance, a high genetic load in familial CKD clusters, and is associated with kidney failure. Carriers of this variant display reduced disease severity, slower CKD progression, and intermediate reduction of urinary uromodulin levels [2,4].
In conclusion, Umod is crucial for normal kidney function, and its mutations are significantly associated with kidney diseases such as ADTKD and CKD. Studies on Umod-related mutations in different populations help to understand the genetic architecture of these kidney diseases, providing insights into disease mechanisms and potentially guiding the development of diagnostic and treatment strategies.
References:
1. Devuyst, Olivier, Bochud, Murielle, Olinger, Eric. 2022. UMOD and the architecture of kidney disease. In Pflugers Archiv : European journal of physiology, 474, 771-781. doi:10.1007/s00424-022-02733-4. https://pubmed.ncbi.nlm.nih.gov/35881244/
2. Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Bleyer, Anthony J, Devuyst, Olivier. 2020. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. In Kidney international, 98, 717-731. doi:10.1016/j.kint.2020.04.038. https://pubmed.ncbi.nlm.nih.gov/32450155/
3. Devuyst, Olivier, Pattaro, Cristian. 2017. The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease. In Journal of the American Society of Nephrology : JASN, 29, 713-726. doi:10.1681/ASN.2017070716. https://pubmed.ncbi.nlm.nih.gov/29180396/
4. Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Rampoldi, Luca, Devuyst, Olivier. 2022. An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2114734119. doi:10.1073/pnas.2114734119. https://pubmed.ncbi.nlm.nih.gov/35947615/
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