C57BL/6JCya-Httem1flox/Cya
Common Name:
Htt-flox
Product ID:
S-CKO-02859
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Htt-flox
Strain ID
CKOCMP-15194-Htt-B6J-VA
Gene Name
Product ID
S-CKO-02859
Gene Alias
C430023I11Rik; Hd; Hdh; IT15
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Httem1flox/Cya mice (Catalog S-CKO-02859) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000080036
NCBI RefSeq
NM_010414
Target Region
Exon 4~5
Size of Effective Region
~2.7 kb
Detailed Document
Overview of Gene Research
HTT, encoding the huntingtin protein, is of great significance. An abnormal expansion of a glutamine stretch (polyQ) in the N-terminal sequence of the huntingtin protein, caused by a CAG repeat expansion in exon 1 of the HTT gene, leads to the devastating neurodegenerative disorder Huntington's disease (HD) [1,2,3,4,5,7,8]. HTT is ubiquitously expressed at both tissue and subcellular levels, interacting with many partners, yet its cellular function has long been ill-defined [1].
Using HD knock-in mice expressing full-length mutant HTT with a 140-glutamine repeat at the endogenous level, studies showed that the numbers of astrocytes and oligodendrocytes were not significantly altered in postnatal HD KI mice compared to wild-type mice. However, at 3 months of age, myelin protein expression was reduced, and myelin thickness of axons was slightly but significantly decreased in HD KI mice, suggesting that cytoplasmic mutant HTT mediates myelination defects in the early disease stage without affecting glial cell differentiation and maturation [6].
In conclusion, HTT is closely associated with Huntington's disease. The study of HD knock-in mouse models reveals that mutant HTT may have a specific impact on myelination in the early stage of the disease, providing insights into the pathological mechanisms of HD. This helps in understanding the role of HTT in normal and disease-related biological processes, and may contribute to the development of therapeutic strategies for Huntington's disease.
References:
1. Saudou, Frédéric, Humbert, Sandrine. . The Biology of Huntingtin. In Neuron, 89, 910-26. doi:10.1016/j.neuron.2016.02.003. https://pubmed.ncbi.nlm.nih.gov/26938440/
2. Fienko, Sandra, Landles, Christian, Sathasivam, Kirupa, Kordasiewicz, Holly B, Bates, Gillian P. . Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics. In Brain : a journal of neurology, 145, 4409-4424. doi:10.1093/brain/awac241. https://pubmed.ncbi.nlm.nih.gov/35793238/
3. Kennedy, Michelle A, Greco, Todd M, Song, Bokai, Cristea, Ileana M. 2022. HTT-OMNI: A Web-based Platform for Huntingtin Interaction Exploration and Multi-omics Data Integration. In Molecular & cellular proteomics : MCP, 21, 100275. doi:10.1016/j.mcpro.2022.100275. https://pubmed.ncbi.nlm.nih.gov/35932982/
4. Podvin, Sonia, Reardon, Holly T, Yin, Katrina, Mosier, Charles, Hook, Vivian. 2018. Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration. In Journal of neurology, 266, 551-564. doi:10.1007/s00415-018-8940-6. https://pubmed.ncbi.nlm.nih.gov/29956026/
5. Kohli, Harleen, Kumar, Pravir, Ambasta, Rashmi K. 2021. In silico designing of putative peptides for targeting pathological protein Htt in Huntington's disease. In Heliyon, 7, e06088. doi:10.1016/j.heliyon.2021.e06088. https://pubmed.ncbi.nlm.nih.gov/33659724/
6. Yang, Sitong, Ma, Jingjing, Zhang, Han, Li, Xiao-Jiang, Guo, Xiangyu. 2023. Mutant HTT does not affect glial development but impairs myelination in the early disease stage. In Frontiers in neuroscience, 17, 1238306. doi:10.3389/fnins.2023.1238306. https://pubmed.ncbi.nlm.nih.gov/37539389/
7. Bhattacharyya, Anuradha, Trotta, Christopher R, Narasimhan, Jana, Colacino, Joseph M, Peltz, Stuart W. 2021. Small molecule splicing modifiers with systemic HTT-lowering activity. In Nature communications, 12, 7299. doi:10.1038/s41467-021-27157-z. https://pubmed.ncbi.nlm.nih.gov/34911927/
8. Soares, Ericks S, Prediger, Rui D, Brocardo, Patricia S, Cimarosti, Helena I. 2022. SUMO-modifying Huntington's disease. In IBRO neuroscience reports, 12, 203-209. doi:10.1016/j.ibneur.2022.03.002. https://pubmed.ncbi.nlm.nih.gov/35746980/
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