C57BL/6JCya-Pofut2em1/Cya
Common Name
Pofut2-KO
Product ID
S-KO-18970
Backgroud
C57BL/6JCya
Strain ID
KOCMP-80294-Pofut2-B6J-VA
Status
When using this mouse strain in a publication, please cite “Pofut2-KO Mouse (Catalog S-KO-18970) 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
Pofut2-KO
Strain ID
KOCMP-80294-Pofut2-B6J-VA
Gene Name
Product ID
S-KO-18970
Gene Alias
FUT13, C21orf80, 2310011G23Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 10 (Mouse)
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Transcript ID
ENSMUST00000020493
NCBI Transcript ID
NM_030262
Target Region
Exon 3~4
Size of Effective Region
~2.1 kb
Overview of Gene Research
Pofut2, also known as FUT13, is an enzyme that catalyzes protein O-fucosylation on serine/threonine residues of thrombospondin type 1 repeats (TSR) [1,2]. This post-translational modification is essential for proper development in mice, with Pofut2-deficient mouse embryos showing early embryonic lethality [1,3]. It is involved in extracellular matrix (ECM) remodeling and signaling pathways, which are crucial for bone development and other biological processes [3].
Mouse models with Pofut2 knockout (KO) or conditional knockout (CKO) have provided key insights. Deletion of Pofut2 in the developing limb mesenchyme using Prrx1-Cre recombinase led to limb, long bone, and tendon shortening, along with joint stiffness, resembling human and mouse musculoskeletal dysplasias. This was due to decreased BMP and IHH signaling, increased TGF-β signaling, and abnormal ECM properties [3]. In HEK293T cells, CRISPR-Cas9-mediated knockout of POFUT2 blocked secretion of ADAMTS9, and similar gastrulation defects were observed in Pofut2 and Adamts9 knockout embryos, suggesting that defects in ADAMTS9 secretion may be responsible for the gastrulation defects in Pofut2 mutants [4].
In conclusion, Pofut2 is essential for proper development, mainly through its role in O-fucosylation of TSR-containing proteins, which impacts ECM remodeling and signaling. KO and CKO mouse models have been instrumental in uncovering its role in processes like bone development and gastrulation, potentially providing insights into related human diseases such as musculoskeletal dysplasias [3,4].
References：
1. Schneider, Michael, Al-Shareffi, Esam, Haltiwanger, Robert S. . Biological functions of fucose in mammals. In Glycobiology, 27, 601-618. doi:10.1093/glycob/cwx034. https://pubmed.ncbi.nlm.nih.gov/28430973/
2. Chen, Chun-I, Keusch, Jeremy J, Klein, Dominique, Hofsteenge, Jan, Gut, Heinz. . Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. In The EMBO journal, 31, 3183-97. doi:10.1038/emboj.2012.143. https://pubmed.ncbi.nlm.nih.gov/22588082/
3. Neupane, Sanjiv, Berardinelli, Steven J, Cameron, Daniel C, Haltiwanger, Robert S, Holdener, Bernadette C. 2022. O-fucosylation of thrombospondin type 1 repeats is essential for ECM remodeling and signaling during bone development. In Matrix biology : journal of the International Society for Matrix Biology, 107, 77-96. doi:10.1016/j.matbio.2022.02.002. https://pubmed.ncbi.nlm.nih.gov/35167946/
4. Benz, Brian A, Nandadasa, Sumeda, Takeuchi, Megumi, Haltiwanger, Robert S, Holdener, Bernadette C. 2016. Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion. In Developmental biology, 416, 111-122. doi:10.1016/j.ydbio.2016.05.038. https://pubmed.ncbi.nlm.nih.gov/27297885/
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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