C57BL/6JCya-Fam20aem1flox/Cya
Common Name:
Fam20a-flox
Product ID:
S-CKO-19105
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Fam20a-flox
Strain ID
CKOCMP-208659-Fam20a-B6J-VB
Gene Name
Product ID
S-CKO-19105
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Fam20aem1flox/Cya mice (Catalog S-CKO-19105) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000020938
NCBI RefSeq
NM_153782
Target Region
Exon 5~6
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Fam20a, Family with Sequence Similarity 20, Member A, is a pseudo-kinase in the secretory pathway. It binds to FAM20C, the Golgi casein kinase, and potentiates its function to phosphorylate secreted proteins crucial for biomineralization. FAM20A is essential for amelogenesis and maintaining pulp tissue homeostasis, preventing ectopic mineralization in soft tissues [1,2].
In a Sox2-Cre;Fam20afl/fl KO mouse model, mice developed an enamel phenotype resembling human amelogenesis imperfecta associated with FAM20A mutations, but had no apparent dentin defects. Secretory-stage ameloblasts were shorter, detached from the enamel matrix, lost polarity, and formed abnormal extracellular matrices. The expression of enamel matrix protein-encoding genes was reduced, while that of dentin matrix proteins remained unchanged. Also, Fam20a ablation led to a decrease in FAM20C protein level [2]. In another study with epithelial-specific Fam20a knockout in mice, it led to short root defects, with irregular breaks in the epithelial root sheath, initiation of the WNT signaling pathway, and decreased expression of the cell polarity-related transcription factor Cdc42. The osteoclast peak around the mandibular first molar was delayed, causing slower eruption pathway formation and delayed tooth eruption [3].
In conclusion, Fam20a is vital for amelogenesis, pulp tissue homeostasis, and tooth root development. The KO mouse models have revealed its role in preventing ectopic mineralization, and its importance in enamel and tooth root formation. These findings enhance our understanding of diseases like enamel renal syndrome, which is caused by FAM20A mutations [1,3,4,5].
References:
1. Wang, Shih-Kai, Zhang, Hong, Wang, Yin-Lin, Simmer, James P, Hu, Jan C-C. 2023. FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome. In International endodontic journal, 56, 943-954. doi:10.1111/iej.13928. https://pubmed.ncbi.nlm.nih.gov/37159186/
2. Li, Lili, Saiyin, Wuliji, Zhang, Hua, Qin, Chunlin, Lu, Yongbo. 2019. FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis. In Journal of molecular histology, 50, 581-591. doi:10.1007/s10735-019-09851-x. https://pubmed.ncbi.nlm.nih.gov/31667691/
3. Liu, Lixue, Yao, Lihong, Lu, Zeyu, Jin, Han, Zhang, Bin. 2023. Epithelial-specific deletion of FAM20A leads to short root defects. In Gene, 884, 147731. doi:10.1016/j.gene.2023.147731. https://pubmed.ncbi.nlm.nih.gov/37625561/
4. de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Berdal, Ariane, Bloch-Zupan, Agnes. 2014. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. In Orphanet journal of rare diseases, 9, 84. doi:10.1186/1750-1172-9-84. https://pubmed.ncbi.nlm.nih.gov/24927635/
5. Hassib, Nehal F, Shoeib, Mona A, ElSadek, Hoda A, Mostafa, Mostafa I, Abdel-Hamid, Mohamed S. 2020. Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. In European journal of medical genetics, 63, 104045. doi:10.1016/j.ejmg.2020.104045. https://pubmed.ncbi.nlm.nih.gov/32835847/
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