C57BL/6JCya-Micos13em1/Cya
Common Name:
Micos13-KO
Product ID:
S-KO-19490
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Micos13-KO
Strain ID
KOCMP-224904-Micos13-B6J-VB
Gene Name
Product ID
S-KO-19490
Gene Alias
2410015M20Rik; Mic13; QIL1; sr104
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
17
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Micos13em1/Cya mice (Catalog S-KO-19490) 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. This 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 [1,3,4].
In a patient with hepato-encephalopathy and mitochondrial DNA depletion syndrome (MTDPS), a novel homozygous frameshift variant, c.13_29del (p.Trp6Profs*71) in MICOS13 was identified. Loss of the MICOS13 protein led to fewer cristae structures in the patient's fibroblasts. Rescuing mitochondrial respiratory chain complex deficiencies by stable expression of wild-type MICOS13 cDNA in the patient's fibroblasts suggested that this novel variant causes hepato-encephalopathy with MTDPS [1]. In another study, exome sequencing of patients suspected of having mitochondrial diseases identified pathogenic variants in MICOS13 among other genes [2].
In summary, MICOS13 is essential for maintaining mitochondrial cristae junctions and normal mitochondrial function. Genetic variants in MICOS13 are associated with severe mitochondrial diseases, such as hepato-encephalopathy with MTDPS. Understanding the role of MICOS13 through patient-based functional studies helps to elucidate the molecular mechanisms underlying these mitochondrial disorders.
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. 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/
4. 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/
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