C57BL/6JCya-Npc1em1/Cya
Common Name
Npc1-KO
Product ID
S-KO-03415
Backgroud
C57BL/6JCya
Strain ID
KOCMP-18145-Npc1-B6J-VA
Status
When using this mouse strain in a publication, please cite “Npc1-KO Mouse (Catalog S-KO-03415) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Npc1-KO
Strain ID
KOCMP-18145-Npc1-B6J-VA
Gene Name
Product ID
S-KO-03415
Gene Alias
spm, lcsd, nmf164, D18Ertd139e, D18Ertd723e, A430089E03Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 18 (Mouse)
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Transcript ID
ENSMUST00000025279
NCBI Transcript ID
NM_008720
Target Region
Exon 2~3
Size of Effective Region
~2.7 kb
Overview of Gene Research
Npc1, Niemann-Pick type C1, is an integral membrane protein on the limiting membrane of late endosome/lysosome. It is crucial for post-lysosomal cholesterol trafficking, accepting cholesterol from NPC2 and mediating its transport to endoplasmic reticulum and plasma membrane, thus maintaining lipid homeostasis [3]. This process is essential for various cellular functions and is linked to multiple biological pathways, including mTORC1 signaling which couples cholesterol sensing to organelle homeostasis [1].
In Npc1-deficient models, such as Npc1 -/- mice, loss of Npc1 causes cholesterol accumulation within lysosomes, leading to mTORC1 hyperactivation, disrupted mitochondrial function, and neurodegeneration, typical of Niemann-Pick type C disease [1]. In zebrafish, Npc1 deficiency causes microglia to change from a branched to an ameboid form and an efferocytosis-dependent expansion of the microglial gastrosome [2]. In NPC1-KO melanoma cells, there is decreased pigmentation due to defective processing and localization of tyrosinase [4].
In conclusion, Npc1 is essential for maintaining cholesterol and lipid homeostasis. Studies using Npc1-KO or related loss-of-function models have revealed its role in diseases like Niemann-Pick type C, neurodegeneration, and have also shown its impact on microglial morphology and melanosome maturation. These models significantly contribute to understanding the mechanisms underlying these disease conditions and related biological processes [1,2,4].
References:
1. Davis, Oliver B, Shin, Hijai R, Lim, Chun-Yan, Ordonez, M Paulina, Zoncu, Roberto. 2020. NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C. In Developmental cell, 56, 260-276.e7. doi:10.1016/j.devcel.2020.11.016. https://pubmed.ncbi.nlm.nih.gov/33308480/
2. Zareba, Joanna, Cattaneo, Elena F, Villani, Ambra, Streb, Sebastian, Peri, Francesca. 2024. NPC1 links cholesterol trafficking to microglial morphology via the gastrosome. In Nature communications, 15, 8638. doi:10.1038/s41467-024-52874-6. https://pubmed.ncbi.nlm.nih.gov/39366931/
3. Yu, Xiao-Hua, Jiang, Na, Yao, Ping-Bo, Cayabyab, Francisco S, Tang, Chao-Ke. 2013. NPC1, intracellular cholesterol trafficking and atherosclerosis. In Clinica chimica acta; international journal of clinical chemistry, 429, 69-75. doi:10.1016/j.cca.2013.11.026. https://pubmed.ncbi.nlm.nih.gov/24296264/
4. Rus, Alina Adriana, Militaru, Ioana V, Popa, Ioana, Platt, Frances M, Petrescu, Ștefana M. 2023. NPC1 plays a role in the trafficking of specific cargo to melanosomes. In The Journal of biological chemistry, 299, 105024. doi:10.1016/j.jbc.2023.105024. https://pubmed.ncbi.nlm.nih.gov/37423302/
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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