C57BL/6JCya-Mpzl2em1/Cya
Common Name:
Mpzl2-KO
Product ID:
S-KO-17576
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Mpzl2-KO
Strain ID
KOCMP-14012-Mpzl2-B6J-VB
Gene Name
Product ID
S-KO-17576
Gene Alias
Eva; Eva1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mpzl2em1/Cya mice (Catalog S-KO-17576) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034600
NCBI RefSeq
NM_007962.4
Target Region
Exon 2~4
Size of Effective Region
~4.5 kb
Detailed Document
Overview of Gene Research
Mpzl2, encoding the epithelial junctional protein Myelin Protein Zero-like 2, is essential for hearing. It is an adhesion molecule mediating epithelial cell-cell interactions, and its function in the inner ear seems unique [5].
Mutations in Mpzl2 cause autosomal recessive non-syndromic hearing loss [1,2,4,5,6,7,8]. Patients typically show mild to moderate progressive hearing loss, with onset age varying from congenital to young adult stage [2,5,6]. In Chinese populations, the genetic load of Mpzl2 defects in hearing loss patients is 0.24% (8/3272), and 7.02% in patients with hereditary moderate sensorineural hearing loss caused by certain genes [2]. A mouse model with a deletion in the Mpzl2 gene displayed moderate and slowly progressive hearing loss, mimicking the human DFNB111 phenotype. Gene replacement therapy mediated by AAV-ie for Mpzl2-/-mice significantly lowered auditory thresholds and restored structural integrity in outer hair cells and Deiters cells, suggesting potential for treating Mpzl2-related deafness [3].
In conclusion, Mpzl2 is crucial for hearing. Studies on Mpzl2-deficient mouse models have revealed its role in maintaining the structural integrity of the inner ear and the progression of hearing loss. These findings provide valuable insights for understanding the mechanism of Mpzl2-related hearing loss and offer potential therapeutic strategies for this condition.
References：
1. Li, Weitao, Guo, Luo, Chen, Bing, Shu, Yilai, Li, Huawei. 2023. MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients. In International journal of pediatric otorhinolaryngology, 171, 111635. doi:10.1016/j.ijporl.2023.111635. https://pubmed.ncbi.nlm.nih.gov/37390746/
2. Zhang, Lang, Yang, Jin-Yuan, Wang, Qiu-Quan, Huang, Sha-Sha, Yuan, Yong-Yi. 2024. MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. In BMC medical genomics, 17, 32. doi:10.1186/s12920-023-01786-3. https://pubmed.ncbi.nlm.nih.gov/38254107/
3. Jiang, Luoying, Hu, Shao Wei, Wang, Zijing, He, Yingzi, Shu, Yilai. 2024. Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness. In American journal of human genetics, 111, 2253-2264. doi:10.1016/j.ajhg.2024.08.008. https://pubmed.ncbi.nlm.nih.gov/39241775/
4. Amalou, Ghita, Bonnet, Crystel, Riahi, Zied, Petit, Christine, Barakat, Abdelhamid. 2020. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. In International journal of pediatric otorhinolaryngology, 140, 110481. doi:10.1016/j.ijporl.2020.110481. https://pubmed.ncbi.nlm.nih.gov/33234333/
5. Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Pennings, Ronald J E, Kremer, Hannie. 2018. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. In American journal of human genetics, 103, 74-88. doi:10.1016/j.ajhg.2018.05.011. https://pubmed.ncbi.nlm.nih.gov/29961571/
6. Wang, Zhili, Jiang, Mengda, Wu, Hao, Li, Yun, Chen, Ying. 2022. A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review. In Laryngoscope investigative otolaryngology, 7, 870-876. doi:10.1002/lio2.829. https://pubmed.ncbi.nlm.nih.gov/35734045/
7. Bademci, Guney, Abad, Clemer, Incesulu, Armagan, Walz, Katherina, Tekin, Mustafa. 2018. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. In Human genetics, 137, 479-486. doi:10.1007/s00439-018-1901-4. https://pubmed.ncbi.nlm.nih.gov/29982980/
8. Lo, Emma, Blair, Justin, Yamamoto, Nobuko, Krantz, Ian D, Hartman, Tiffiney R. 2024. Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111. In American journal of medical genetics. Part A, 194, e63530. doi:10.1002/ajmg.a.63530. https://pubmed.ncbi.nlm.nih.gov/38197511/
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