C57BL/6JCya-Nup85em1/Cya
Common Name:
Nup85-KO
Product ID:
S-KO-18007
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nup85-KO
Strain ID
KOCMP-445007-Nup85-B6J-VB
Gene Name
Product ID
S-KO-18007
Gene Alias
Pcnt1; frount
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nup85em1/Cya mice (Catalog S-KO-18007) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021085
NCBI RefSeq
NM_001002929.4
Target Region
Exon 3~7
Size of Effective Region
~3520 bp
Detailed Document
Overview of Gene Research
Nup85, encoding nucleoporin, is a member of the Y-complex of the nuclear pore complex (NPC) crucial for nucleocytoplasmic transport, mitosis regulation, transcription, and chromatin organization [3,4]. It is also related to lipid metabolism and inflammation, potentially interacting with the PI3K/AKT signaling pathway [2].
In humans, Nup85-related disorders have diverse phenotypes. Pathogenic variants in Nup85 can cause steroid-resistant nephrotic syndrome (SRNS), often with associated severe neurodevelopmental impairments such as microcephaly, axial hypotonia, motor milestone delays, and refractory seizures [1]. It has also been linked to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders without SRNS [3,4]. In a murine non-alcoholic fatty liver disease (NAFLD) model, increased Nup85 expression was associated with fat disorder and inflammation, while knockdown had opposite effects [2]. In macrophages of non-alcoholic steatohepatitis (NASH) mice, Nup85, as a substrate for chaperone-mediated autophagy (CMA), was found to be involved in monocyte recruitment and disease progression [5].
In conclusion, Nup85 is essential for normal physiological functions, especially in the context of kidney and brain development, as well as lipid metabolism and inflammation regulation. Studies of Nup85 in disease models like SRNS, NAFLD, and NASH have provided insights into its role in these disease conditions, highlighting its potential as a therapeutic target.
References:
1. Gambadauro, Antonella, Mangano, Giuseppe Donato, Galletta, Karol, Nardello, Rosaria, Chimenz, Roberto. 2023. NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron. In Genes, 14, . doi:10.3390/genes14122143. https://pubmed.ncbi.nlm.nih.gov/38136965/
2. Wu, Yin-Cui, Yan, Qi, Yue, Si-Qing, Chen, Zhao-Lin, Xu, Tao. 2024. NUP85 alleviates lipid metabolism and inflammation by regulating PI3K/AKT signaling pathway in nonalcoholic fatty liver disease. In International journal of biological sciences, 20, 2219-2235. doi:10.7150/ijbs.92337. https://pubmed.ncbi.nlm.nih.gov/38617542/
3. Ravindran, Ethiraj, Lesca, Gaetan, Januel, Louis, Margot, Henri, Kaindl, Angela M. 2023. Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly. In Frontiers in neurology, 14, 1124886. doi:10.3389/fneur.2023.1124886. https://pubmed.ncbi.nlm.nih.gov/36846113/
4. Ravindran, Ethiraj, Jühlen, Ramona, Vieira-Vieira, Carlos H, Scott, Hamish, Kaindl, Angela M. . Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. In Human molecular genetics, 30, 2068-2081. doi:10.1093/hmg/ddab160. https://pubmed.ncbi.nlm.nih.gov/34170319/
5. Zhang, Miao, Tian, Si Y, Ma, Shuo Y, Wang, Jing B, Han, Ying. 2023. Deficient chaperone-mediated autophagy in macrophage aggravates inflammation of nonalcoholic steatohepatitis by targeting Nup85. In Liver international : official journal of the International Association for the Study of the Liver, 43, 1021-1034. doi:10.1111/liv.15547. https://pubmed.ncbi.nlm.nih.gov/36912786/
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