C57BL/6JCya-Mkksem1/Cya
Common Name:
Mkks-KO
Product ID:
S-KO-18221
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mkks-KO
Strain ID
KOCMP-59030-Mkks-B6J-VA
Gene Name
Product ID
S-KO-18221
Gene Alias
1300013E18Rik; Bbs6
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mkksem1/Cya mice (Catalog S-KO-18221) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000110089
NCBI RefSeq
NM_021527
Target Region
Exon 4~5
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
Mkks, also associated with McKusick-Kaufman syndrome (MKKS) and Bardet-Biedl syndrome (BBS), is a gene encoding a centrosome-shuttling protein. Mutations in the MKKS gene are linked to these genetically heterogeneous disorders, which are characterized by multiple developmental anomalies [1].
A Mkks-null mouse model shows that absence of Mkks leads to retinal degeneration through apoptosis, failure of spermatozoa flagella formation, elevated blood pressure, obesity, hyperphagia, decreased activity, and deficits in olfaction and social dominance [2]. Disease-causing mutants of MKKS in human cells are rapidly degraded via the ubiquitin-proteasome pathway, often failing to localize to the centrosome [1].
In conclusion, Mkks is crucial for normal development and function, with its loss leading to phenotypes resembling BBS in mouse models. Understanding Mkks provides insights into the pathophysiology of BBS and related disorders, highlighting its significance in studying these complex genetic diseases.
References：
1. Hirayama, Shoshiro, Yamazaki, Yuji, Kitamura, Akira, Kubota, Hiroshi, Nagata, Kazuhiro. 2007. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. In Molecular biology of the cell, 19, 899-911. doi:. https://pubmed.ncbi.nlm.nih.gov/18094050/
2. Fath, Melissa A, Mullins, Robert F, Searby, Charles, Stone, Edwin M, Sheffield, Val C. 2005. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. In Human molecular genetics, 14, 1109-18. doi:. https://pubmed.ncbi.nlm.nih.gov/15772095/
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