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C57BL/6JCya-Dync1i2em1/Cya
Common Name:
Dync1i2-KO
Product ID:
S-KO-17951
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Dync1i2-KO
Strain ID
KOCMP-13427-Dync1i2-B6J-VB
Gene Name
Dync1i2
Product ID
S-KO-17951
Gene Alias
3110079H08Rik; Dncic2
Background
C57BL/6JCya
NCBI ID
13427
Modification
Conventional knockout
Chromosome
2
Phenotype
MGI:107750
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-Dync1i2em1/Cya mice (Catalog S-KO-17951) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112144
NCBI RefSeq
NM_001347173.1
Target Region
Exon 3
Size of Effective Region
~1.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Dync1i2, encoding a component of the cytoplasmic dynein 1 complex, is crucial for cargo transport along the cytoplasmic microtubular network, an essential process for neuronal function [3]. It is involved in various cellular functions like neurogenesis and homeostasis. The dynein complex, of which Dync1i2 is a part, is vital for eukaryotic cell function, moving cargos along microtubule tracks [4].

Bi-allelic variants in Dync1i2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features. Zebrafish larvae with disrupted or transiently suppressed dync1i2a showed craniofacial patterning alterations and reduced head size, along with increased apoptosis due to abnormal spindle morphology [3]. In humans, the primate-specific lncRNA HHIP-AS1 binds directly to the mRNA of DYNC1I2 and attenuates its degradation by hsa-miR-425-5p, promoting tumorigenicity in SHH-driven tumors [2]. In cattle, copy number variation of DYNC1I2 gene is associated with body conformation traits, which could be used as a candidate molecular marker for marker-assisted selection of growth traits [1].

In conclusion, Dync1i2 is essential for neurodevelopment and plays a role in diseases such as microcephaly-related syndromes and certain tumors. Its function in cattle growth traits also highlights its significance in animal breeding. The studies on Dync1i2 using model organisms like zebrafish have provided insights into its role in biological processes and disease conditions.

References:
1. Li, Xinmiao, Ding, Xiaoting, Liu, Lingling, Huang, Yongzhen, Liu, Wujun. 2021. Copy number variation of bovine DYNC1I2 gene is associated with body conformation traits in chinese beef cattle. In Gene, 810, 146060. doi:10.1016/j.gene.2021.146060. https://pubmed.ncbi.nlm.nih.gov/34740731/
2. Bartl, Jasmin, Zanini, Marco, Bernardi, Flavia, Ayrault, Olivier, Remke, Marc. 2022. The HHIP-AS1 lncRNA promotes tumorigenicity through stabilization of dynein complex 1 in human SHH-driven tumors. In Nature communications, 13, 4061. doi:10.1038/s41467-022-31574-z. https://pubmed.ncbi.nlm.nih.gov/35831316/
3. Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A, Davis, Erica E, Antonarakis, Stylianos E. 2019. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. In American journal of human genetics, 104, 1073-1087. doi:10.1016/j.ajhg.2019.04.002. https://pubmed.ncbi.nlm.nih.gov/31079899/
4. Kuta, Anna, Deng, Wenhan, Morsi El-Kadi, Ali, Pfister, K Kevin, Fisher, Elizabeth M C. 2010. Mouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcripts. In PloS one, 5, e11682. doi:10.1371/journal.pone.0011682. https://pubmed.ncbi.nlm.nih.gov/20657784/
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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