C57BL/6JCya-Micos13em1flox/Cya
Common Name:
Micos13-flox
Product ID:
S-CKO-17867
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Micos13-flox
Strain ID
CKOCMP-224904-Micos13-B6J-VB
Gene Name
Product ID
S-CKO-17867
Gene Alias
2410015M20Rik; Mic13; QIL1; sr104
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Micos13em1flox/Cya mice (Catalog S-CKO-17867) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000052832
NCBI RefSeq
NM_153152
Target Region
Exon 2~4
Size of Effective Region
~2.5 kb
Detailed Document
Overview of Gene Research
MICOS13, also known as QIL1, MIC13, or C19orf70, is a component of the MICOS complex. The MICOS complex is crucial for maintaining cristae junctions at the mitochondrial inner membrane, which are implicated in regulating oxidative phosphorylation, apoptosis, and import of lipids and proteins [1,4,5,6,7].
In a hepato-encephalopathy patient with mitochondrial DNA depletion syndrome (MTDPS), a novel homozygous frameshift variant, c.13_29del (p.Trp6Profs*71) in MICOS13 was identified. Loss of MICOS13 protein led to fewer cristae structures in the patient's fibroblasts, and stable expression of wild-type MICOS13 cDNA rescued mitochondrial respiratory chain complex deficiencies, suggesting this variant causes hepato-encephalopathy with MTDPS [1]. In other patients suspected of having mitochondrial diseases, exome sequencing revealed pathogenic variants in MICOS13 among other genes [2]. Additionally, a study on beef color stability found that in beef with intermediate ultimate pH packaged in vacuum, MICOS13 was upregulated, indicating enhanced mitochondrial integrity [3]. Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes, and deletion of these regions affects the stability and functionality of MIC13, leading to abnormal cristae morphology [4]. Knockout of MICOS13 in cells shows a complete loss of crista junctions, and it is required for the assembly of some MICOS subunits into the complex [5]. Mutations in MICOS13 are associated with early-onset fatal mitochondrial encephalopathy with liver disease, causing MICOS disassembly, abnormal cristae, and defects in respiratory chain function [6]. A novel mutation in the C19orf70 gene encoding QIL1 (MICOS13) induces severe mitochondrial encephalopathy, hepatopathy, and lactate acidosis, along with bilateral kidney stones, and leads to disassembly of the MICOS complex and aberrant cristae structure [7].
In conclusion, MICOS13 plays a fundamental role in maintaining mitochondrial ultrastructure, specifically in the formation of crista junctions and the assembly of the MICOS complex. Research on MICOS13, especially through functional studies in cell models and patients with mutations, has revealed its importance in mitochondrial-related diseases such as MTDPS, mitochondrial encephalopathy, and hepatopathy. These findings contribute to a better understanding of the pathogenesis of these diseases and may potentially guide future treatment strategies.
References:
1. Kishita, Yoshihito, Shimura, Masaru, Kohda, Masakazu, Murayama, Kei, Okazaki, Yasushi. 2020. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. In Molecular genetics & genomic medicine, 8, e1427. doi:10.1002/mgg3.1427. https://pubmed.ncbi.nlm.nih.gov/32749073/
2. Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gokcay, Gulden Fatma, Uyguner, Zehra Oya. 2023. Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases. In Frontiers in genetics, 14, 1191159. doi:10.3389/fgene.2023.1191159. https://pubmed.ncbi.nlm.nih.gov/37377599/
3. Krauskopf, Monique Marcondes, Antonelo, Daniel S, de Araújo, Chimenes Darlan Leal, Ramanathan, Ranjith, Castillo, Carmen Josefina Contreras. 2025. Mitochondrial proteome basis for the biological variations in beef color stability of longissimus lumborum muscle differing in ultimate pH and packaging methods. In Meat science, 226, 109842. doi:10.1016/j.meatsci.2025.109842. https://pubmed.ncbi.nlm.nih.gov/40344784/
4. Urbach, Jennifer, Kondadi, Arun Kumar, David, Céline, Reichert, Andreas S, Anand, Ruchika. 2021. Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes. In Biochimica et biophysica acta. Biomembranes, 1863, 183683. doi:10.1016/j.bbamem.2021.183683. https://pubmed.ncbi.nlm.nih.gov/34271005/
5. Anand, Ruchika, Strecker, Valentina, Urbach, Jennifer, Wittig, Ilka, Reichert, Andreas S. 2016. Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells. In PloS one, 11, e0160258. doi:10.1371/journal.pone.0160258. https://pubmed.ncbi.nlm.nih.gov/27479602/
6. Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Harper, J Wade, Schiff, Manuel. 2016. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. In eLife, 5, . doi:10.7554/eLife.17163. https://pubmed.ncbi.nlm.nih.gov/27623147/
7. Gödiker, J, Grüneberg, M, DuChesne, I, Pohlmann, R, Marquardt, T. 2018. QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. In Journal of human genetics, 63, 707-716. doi:10.1038/s10038-018-0442-y. https://pubmed.ncbi.nlm.nih.gov/29618761/
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