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C57BL/6JCya-Ush2aem1/Cya
Common Name:
Ush2a-KO
Product ID:
S-KO-05659
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ush2a-KO
Strain ID
KOCMP-22283-Ush2a-B6J-VA
Gene Name
Ush2a
Product ID
S-KO-05659
Gene Alias
A930011D15Rik; A930037M10Rik; Gm676; Gm983; Mush2a; Ushrn
Background
C57BL/6JCya
NCBI ID
22283
Modification
Conventional knockout
Chromosome
1
Phenotype
MGI:1341292
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ush2aem1/Cya mice (Catalog S-KO-05659) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000060479
NCBI RefSeq
NM_021408
Target Region
Exon 4~8
Size of Effective Region
~9.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
USH2A, also known as usherin, is a gene with significant importance. It encodes a protein that is crucial for the normal function of the retina and inner ear. Mutations in this gene disrupt its normal function, which is associated with pathways related to maintaining the integrity of photoreceptor cells in the retina and the function of hair cells in the inner ear. Its proper functioning is vital for normal vision and hearing [2,4].

Biallelic variants in USH2A can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa [2]. In a study of Chinese patients, 230 variants in USH2A were identified, with 90 (39.13%) being novel. Patients with biallelic truncating variants had an earlier age at initial clinical visit and symptom onset compared to those with missense variants. Also, USH2 patients had an earlier onset of visual decline compared to non-syndromic retinitis pigmentosa patients [1]. Another study found that the prevalence of USH2A mutations in a cohort of Chinese patients with inherited retinal disease was 15.75%, with hotspots at c.8559-2A > G and c.2802T > G. USH2 patients had earlier and more serious visual function decline and retinal structure damage in the first 10 years compared to retinitis pigmentosa patients [3].

In conclusion, USH2A is essential for the normal function of the retina and inner ear. Studies on patients with USH2A-related diseases have provided insights into the genotype-phenotype correlations. Understanding USH2A's role through these studies is crucial for the development of potential therapies for Usher syndrome type 2 and non-syndromic retinitis pigmentosa [1,2,3].

References:

1. Zhu, Tian, Chen, De-Fu, Wang, Lei, Jin, Zi-Bing, Sui, Ruifang. 2020. USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. In The British journal of ophthalmology, 105, 694-703. doi:10.1136/bjophthalmol-2019-315786. https://pubmed.ncbi.nlm.nih.gov/32675063/

2. Toualbi, Lyes, Toms, Maria, Moosajee, Mariya. 2020. USH2A-retinopathy: From genetics to therapeutics. In Experimental eye research, 201, 108330. doi:10.1016/j.exer.2020.108330. https://pubmed.ncbi.nlm.nih.gov/33121974/

3. Gao, Feng-Juan, Wang, Dan-Dan, Chen, Fang, Chang, Qing, Wu, Ji-Hong. 2020. Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. In The British journal of ophthalmology, 105, 87-92. doi:10.1136/bjophthalmol-2020-315878. https://pubmed.ncbi.nlm.nih.gov/32188678/

4. McGee, Terri L, Seyedahmadi, Babak Jian, Sweeney, Meredith O, Dryja, Thaddeus P, Berson, Eliot L. 2010. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. In Journal of medical genetics, 47, 499-506. doi:10.1136/jmg.2009.075143. https://pubmed.ncbi.nlm.nih.gov/20507924/

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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