Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Micos13em1flox/Cya
Common Name:
Micos13-flox
Product ID:
S-CKO-17867
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Micos13-flox
Strain ID
CKOCMP-224904-Micos13-B6J-VB
Gene Name
Micos13
Product ID
S-CKO-17867
Gene Alias
2410015M20Rik; Mic13; QIL1; sr104
Background
C57BL/6JCya
NCBI ID
224904
Modification
Conditional knockout
Chromosome
17
Phenotype
MGI:2442174
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
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
Click here to download >>
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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest