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C57BL/6JCya-Kyem1/Cya
Common Name:
Ky-KO
Product ID:
S-KO-18731
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Ky-KO
Strain ID
KOCMP-16716-Ky-B6J-VB
Gene Name
Ky
Product ID
S-KO-18731
Gene Alias
CD1; D9Mgc44e; ky
Background
C57BL/6JCya
NCBI ID
16716
Modification
Conventional knockout
Chromosome
9
Phenotype
MGI:96709
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kyem1/Cya mice (Catalog S-KO-18731) 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
Click here to download >>
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, being essential for the development of the musculoskeletal system. Mutations in KY are associated with Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP) [1].

In an Iranian family, a homozygous novel variant (NM_178554.6:c.1247T > A, p. Ile416Asn) in KY was identified in two MFM-7 patients born to consanguineous parents, with their parents having the same heterozygous mutation. The patients showed muscle weakness, atrophy, mobility restriction, and hyporeflexia. This discovery reveals how mutations in KY can lead to MFM-7, an early-onset muscle disorder with autosomal recessive inheritance, marked by progressive muscle weakness and joint contractures [1].

In conclusion, Ky is crucial for the development of the musculoskeletal system through its role in neuromuscular intersection formation and stabilization. The identification of KY mutations in MFM-7 patients provides insights into the genetic basis of this muscle disorder, highlighting the importance of studying KY in understanding the mechanisms of MFM-7 and potentially other related diseases [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
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