C57BL/6JCya-Kyem1flox/Cya
Common Name:
Ky-flox
Product ID:
S-CKO-19038
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ky-flox
Strain ID
CKOCMP-16716-Ky-B6J-VB
Gene Name
Product ID
S-CKO-19038
Gene Alias
CD1; D9Mgc44e; ky
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kyem1flox/Cya mice (Catalog S-CKO-19038) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000039390
NCBI RefSeq
NM_024291
Target Region
Exon 6~8
Size of Effective Region
~3.9 kb
Detailed Document
Overview of Gene Research
Ky, located on chromosome 3, encodes Kyphoscoliosis Peptidase, a transglutaminase-like protein in skeletal muscles. It is primarily involved in the formation and stabilization of neuromuscular intersections, which is essential for the development of the musculoskeletal system [1].
Mutations in KY cause Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP). MFM-7 is an early-onset muscle disorder with autosomal recessive inheritance, characterized by progressive muscle weakness and joint contractures. An Iranian family with MFM-7 was found to have a homozygous novel variant in KY (NM_178554.6:c.1247T > A, p. Ile416Asn) in two patients born to consanguineous parents, and their parents had the same heterozygous mutation [1].
In conclusion, Ky is crucial for the development of the musculoskeletal system. Studies of KY mutations in families like the one described contribute to understanding the genotypic and phenotypic spectrum of MFM-7, which is an important step in elucidating the role of Ky in this muscle disorder [1].
References：
1. Ehsani, Elham, Khamirani, Hossein Jafari, Abbasi, Zahra, Mohamadjani, Omid, Dastgheib, Seyed Alireza. 2022. Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review. In European journal of medical genetics, 65, 104552. doi:10.1016/j.ejmg.2022.104552. https://pubmed.ncbi.nlm.nih.gov/35752288/
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