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C57BL/6JCya-Kmt5bem1/Cya
Common Name:
Kmt5b-KO
Product ID:
S-KO-17434
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Kmt5b-KO
Strain ID
KOCMP-225888-Kmt5b-B6J-VA
Gene Name
Kmt5b
Product ID
S-KO-17434
Gene Alias
C630029K18Rik; Suv4-20h1; Suv420h1
Background
C57BL/6JCya
NCBI ID
225888
Modification
Conventional knockout
Chromosome
19
Phenotype
MGI:2444557
Document
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Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kmt5bem1/Cya mice (Catalog S-KO-17434) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000113973
NCBI RefSeq
NM_001167885
Target Region
Exon 5
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
KMT5B, also known as SUV4-20H1, is a lysine methyltransferase. It is involved in histone modification, regulating gene expression during brain development [7]. The genes it regulates are associated with nervous system development and function, including pathways like axon guidance signaling [1].

Pathogenic variants in KMT5B are linked to neurodevelopmental disorders such as global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788) [1,3,4,5,6,7,8]. KMT5B homozygous knockout mice are smaller than wild-type littermates, with relative macrocephaly, similar to the clinical feature in patients [1]. Kmt5b haploinsufficient mice show deficits in neonatal reflexes, sociability, and repetitive stress-induced grooming, along with differences in thermal pain sensing, depression, anxiety, fear, and extinction learning. There are also sexually dimorphic differences, mirroring the sex bias in ASD [9]. In addition, Kmt5b haploinsufficiency in mice results in a skeletal muscle developmental deficit, reducing muscle mass and body weight [2].

In conclusion, KMT5B is essential for normal neurodevelopment and muscle development. Mouse models, especially gene-knockout models, have been crucial in revealing its role in these processes and its association with neurodevelopmental disorders, highlighting the importance of this gene in understanding the underlying mechanisms of related diseases.

References:
1. Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Bhoj, Elizabeth J, Stessman, Holly A F. 2023. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. In Science advances, 9, eade1463. doi:10.1126/sciadv.ade1463. https://pubmed.ncbi.nlm.nih.gov/36897941/
2. Hulen, Jason, Kenny, Dorothy, Black, Rebecca, Abel, Peter W, Stessman, Holly A F. 2022. KMT5B is required for early motor development. In Frontiers in genetics, 13, 901228. doi:10.3389/fgene.2022.901228. https://pubmed.ncbi.nlm.nih.gov/36035149/
3. Stessman, Holly A F, Xiong, Bo, Coe, Bradley P, Bernier, Raphael A, Eichler, Evan E. 2017. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. In Nature genetics, 49, 515-526. doi:10.1038/ng.3792. https://pubmed.ncbi.nlm.nih.gov/28191889/
4. Tong, Jiao, Chen, Xu, Wang, Xin, Yan, Dongmei, Wang, Leilei. 2024. Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report. In Heliyon, 10, e28686. doi:10.1016/j.heliyon.2024.e28686. https://pubmed.ncbi.nlm.nih.gov/38571636/
5. Eliyahu, Aviva, Barel, Ortal, Greenbaum, Lior, Shohat, Mordechai, Pode-Shakked, Ben. 2022. Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay. In Frontiers in pediatrics, 10, 844845. doi:10.3389/fped.2022.844845. https://pubmed.ncbi.nlm.nih.gov/35433545/
6. Odak, Ljubica, Vulin, Katarina, Meašić, Ana-Maria, Šamadan, Lara, Tripalo Batoš, Ana. . Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report. In Croatian medical journal, 64, 334-338. doi:. https://pubmed.ncbi.nlm.nih.gov/37927187/
7. Faundes, Víctor, Newman, William G, Bernardini, Laura, Temple, I Karen, Banka, Siddharth. 2017. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. In American journal of human genetics, 102, 175-187. doi:10.1016/j.ajhg.2017.11.013. https://pubmed.ncbi.nlm.nih.gov/29276005/
8. Chen, Guodong, Han, Lin, Tan, Senwei, Xia, Kun, Guo, Hui. 2022. Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis. In Journal of genetics and genomics = Yi chuan xue bao, 49, 881-890. doi:10.1016/j.jgg.2022.03.004. https://pubmed.ncbi.nlm.nih.gov/35331928/
9. Wickramasekara, Rochelle N, Robertson, Brynn, Hulen, Jason, Hallgren, Jodi, Stessman, Holly A F. 2021. Differential effects by sex with Kmt5b loss. In Autism research : official journal of the International Society for Autism Research, 14, 1554-1571. doi:10.1002/aur.2516. https://pubmed.ncbi.nlm.nih.gov/33871180/
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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