C57BL/6JCya-Wdr72em1flox/Cya
Common Name
Wdr72-flox
Product ID
S-CKO-11834
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-546144-Wdr72-B6J-VA
When using this mouse strain in a publication, please cite “Wdr72-flox Mouse (Catalog S-CKO-11834) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Wdr72-flox
Strain ID
CKOCMP-546144-Wdr72-B6J-VA
Gene Name
Product ID
S-CKO-11834
Gene Alias
D230040E23
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 9
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000055879
NCBI RefSeq
NM_001033500
Target Region
Exon 3
Size of Effective Region
~0.7 kb
Overview of Gene Research
WDR72, or WD repeat-containing protein 72, is a gene with significant implications in multiple biological processes. It has been associated with regulating vesicle trafficking, specifically in ameloblasts where it controls endocytosis of proteins [1]. In addition, it may be involved in acid-base homeostasis as mutations in WDR72 are linked to distal renal tubular acidosis (dRTA) [2].
Mutations in WDR72 cause amelogenesis imperfecta (AI), an inherited enamel defect. In affected families, biallelic WDR72 mutations lead to hypomineralized, discolored enamel that is prone to attrition. Some patients with these mutations also show decreased serum pH, consistent with dRTA [3]. In a study on hypomaturation AI, various novel WDR72 mutations were identified in affected families, expanding the mutational spectrum [4].
In conclusion, WDR72 is crucial for proper tooth enamel formation and acid-base balance in the body. The identification of WDR72 mutations in patients with AI and dRTA through genetic studies helps in understanding the disease mechanisms. These findings may provide a basis for diagnosing and potentially treating these conditions in the future.
References：
1. Katsura, Kaitlin, Nakano, Yukiko, Zhang, Yan, Li, Wu, Den Besten, Pamela. 2022. WDR72 regulates vesicle trafficking in ameloblasts. In Scientific reports, 12, 2820. doi:10.1038/s41598-022-06751-1. https://pubmed.ncbi.nlm.nih.gov/35181734/
2. Wagner, Carsten A, Unwin, Robert, Lopez-Garcia, Sergio C, Bockenhauer, Detlef, Walsh, Stephen. 2023. The pathophysiology of distal renal tubular acidosis. In Nature reviews. Nephrology, 19, 384-400. doi:10.1038/s41581-023-00699-9. https://pubmed.ncbi.nlm.nih.gov/37016093/
3. Zhang, H, Koruyucu, M, Seymen, F, Simmer, J P, Hu, J C C. 2019. WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. In Journal of dental research, 98, 541-548. doi:10.1177/0022034518824571. https://pubmed.ncbi.nlm.nih.gov/30779877/
4. Kim, Youn Jung, Zhang, Hong, Lee, Yejin, Hu, Jan C-C, Kim, Jung-Wook. 2023. Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta. In Journal of personalized medicine, 13, . doi:10.3390/jpm13020326. https://pubmed.ncbi.nlm.nih.gov/36836560/
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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