C57BL/6JCya-Spin4em1/Cya
Common Name
Spin4-KO
Product ID
S-KO-08796
Backgroud
C57BL/6JCya
Strain ID
KOCMP-270624-Spin4-B6J-VA
Status
When using this mouse strain in a publication, please cite “Spin4-KO Mouse (Catalog S-KO-08796) 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
Spin4-KO
Strain ID
KOCMP-270624-Spin4-B6J-VA
Gene Name
Product ID
S-KO-08796
Gene Alias
9630042H07Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr X (Mouse)
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Transcript ID
ENSMUST00000096367
NCBI Transcript ID
NM_178753
Target Region
Exon 1
Size of Effective Region
~4.2 kb
Overview of Gene Research
SPIN4, also known as Spindlin-4, is a Tudor domain-containing protein. It is a principal endogenous substrate of the E3 ubiquitin ligase DCAF16 [1]. SPIN4 preferentially binds trimethylated histone H3K4, and is involved in epigenetic regulation. It promotes canonical WNT signaling and inhibits cell proliferation, thus negatively regulating mammalian body growth [2].
A loss-of-function frameshift variant in SPIN4 was identified in a male individual with generalized overgrowth of prenatal onset, indicating an X-linked overgrowth syndrome [2]. Ablation of Spin4 in mice recapitulated the human phenotype with generalized overgrowth, including increased longitudinal bone growth. Growth plate analysis showed increased cell proliferation in the proliferative zone and more progenitor chondrocytes in the resting zone, along with decreased canonical Wnt signaling in growth plate chondrocytes [2].
In conclusion, SPIN4 is an epigenetic reader that plays a crucial role in negatively regulating mammalian body growth. The discovery from Spin4 knockout mouse models provides strong evidence for its role in an X-linked overgrowth syndrome, expanding our understanding of the epigenetic regulation of human growth [2].
References:
1. Zhang, Xiaoyu, Thielert, Marvin, Li, Haoxin, Cravatt, Benjamin F. 2021. SPIN4 Is a Principal Endogenous Substrate of the E3 Ubiquitin Ligase DCAF16. In Biochemistry, 60, 637-642. doi:10.1021/acs.biochem.1c00067. https://pubmed.ncbi.nlm.nih.gov/33636084/
2. Lui, Julian C, Wagner, Jacob, Zhou, Elaine, Jee, Youn Hee, Baron, Jeffrey. 2023. Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome. In JCI insight, 8, . doi:10.1172/jci.insight.167074. https://pubmed.ncbi.nlm.nih.gov/36927955/
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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