C57BL/6JCya-Thg1lem1flox/Cya
Common Name:
Thg1l-flox
Product ID:
S-CKO-13207
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Thg1l-flox
Strain ID
CKOCMP-66628-Thg1l-B6J-VA
Gene Name
Product ID
S-CKO-13207
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-Thg1lem1flox/Cya mice (Catalog S-CKO-13207) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000011398
NCBI RefSeq
NM_001080969
Target Region
Exon 3~4
Size of Effective Region
~2.7 kb
Detailed Document
Overview of Gene Research
Thg1l, also known as induced in high glucose-1 (IHG-1), encodes an essential mitochondria-associated protein. It catalyzes the 3'-5' addition of guanine to the 5'-end of tRNA-histidine (tRNAHis), playing crucial roles in mitochondrial biogenesis, dynamics, ATP production, apoptosis modulation, cell-cycle progression, survival, cellular stress responses, and redox homeostasis [2]. Dysregulations of Thg1l expression are involved in various pathologies like nephropathies and neurodevelopmental disorders [2].
In humans, mutations in Thg1l are associated with autosomal recessive congenital cerebellar ataxia. For example, the homozygous V55A mutation in Thg1l leads to early-onset cerebellar dysfunction, developmental delay, pyramidal signs, and cerebellar atrophy in affected individuals. Fibroblasts from these patients show abnormal mitochondrial networks under obligatory oxidative phosphorylation [1,5]. Compound heterozygous variants in Thg1l also result in autosomal recessive cerebellar ataxia [3]. In the Ashkenazi Jewish population, some compound heterozygous variants expand the phenotypic spectrum of Thg1l-related disorders to include severe epileptic encephalopathy [4].
In conclusion, Thg1l is essential for mitochondrial function and tRNA-histidine modification. Studies on human genetic mutations associated with Thg1l have revealed its role in neurodevelopmental disorders, particularly autosomal recessive congenital cerebellar ataxia and related phenotypes. Understanding Thg1l function through these genetic associations helps in uncovering the molecular mechanisms underlying these diseases, potentially guiding future diagnostic and therapeutic strategies.
References:
1. Walker, Melissa A, Lerman-Sagie, Tally, Swoboda, Kathryn, Lev, Dorit, Blumkin, Lubov. 2019. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. In American journal of medical genetics. Part A, 179, 1575-1579. doi:10.1002/ajmg.a.61196. https://pubmed.ncbi.nlm.nih.gov/31168944/
2. Martini, Davide, De Cesari, Chiara, Digregorio, Matteo, Giannaccini, Martina, Andreazzoli, Massimiliano. 2024. Expression analysis of thg1l during Xenopus laevis development. In The International journal of developmental biology, 68, 85-91. doi:10.1387/ijdb.240033ma. https://pubmed.ncbi.nlm.nih.gov/39016375/
3. Han, Rui, Chu, Manman, Gao, Jinshuang, Jia, Tianming, Zhang, Xiaoli. 2023. Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia. In Journal of human genetics, 68, 843-848. doi:10.1038/s10038-023-01192-8. https://pubmed.ncbi.nlm.nih.gov/37670026/
4. Rabin, Rachel, Hirsch, Yoel, Johansson, Martin M, Ekstein, Ahron, Pappas, John. 2021. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. In American journal of medical genetics. Part A, 185, 1589-1597. doi:10.1002/ajmg.a.62147. https://pubmed.ncbi.nlm.nih.gov/33682303/
5. Edvardson, Simon, Elbaz-Alon, Yael, Jalas, Chaim, Jackman, Jane E, Elpeleg, Orly. 2016. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. In Neurogenetics, 17, 219-225. doi:. https://pubmed.ncbi.nlm.nih.gov/27307223/
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