Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Cyp2r1em1/Cya
Common Name:
Cyp2r1-KO
Product ID:
S-KO-18514
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Cyp2r1-KO
Strain ID
KOCMP-244209-Cyp2r1-B6J-VB
Gene Name
Cyp2r1
Product ID
S-KO-18514
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
244209
Modification
Conventional knockout
Chromosome
7
Phenotype
MGI:2449771
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cyp2r1em1/Cya mice (Catalog S-KO-18514) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000032908
NCBI RefSeq
NM_177382
Target Region
Exon 2
Size of Effective Region
~1.5 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Cyp2r1, located at 11p15.2, is the principal hepatic 25-hydroxylase. It is crucial in the vitamin D metabolic pathway, responsible for the hydroxylation of parent vitamin D to 25-hydroxyvitamin D [25(OH)D], which reflects vitamin D status as the major circulating metabolite of vitamin D [1,2,3].

In Cyp2r1-/-knockout mice, serum 25(OH)D levels were reduced by more than 50% compared to wild-type mice, indicating its essential role in maintaining normal vitamin D metabolite levels [1]. In humans, inactivating mutations in CYP2R1 can lead to a novel form of vitamin D-deficiency rickets (classified as vitamin D dependent rickets type 1B, VDDR1B) due to impaired 25-hydroxylation of vitamin D [1]. Missense mutations (L99P and K242N) in affected members of some Nigerian families with rickets were found. In vitro studies of the mutant CYP2R1 proteins in HEK293 cells showed normal expression levels but completely absent or markedly reduced 25-hydroxylase activity by the L99P and K242N mutations, respectively [1].

In conclusion, Cyp2r1 is vital for the 25-hydroxylation of vitamin D in the vitamin D metabolic pathway. The study of Cyp2r1 knockout mouse models has revealed its key role in maintaining normal vitamin D metabolite levels and its association with vitamin D-deficiency rickets, providing important insights into the mechanism of this disease.

References:
1. Thacher, Tom D, Levine, Michael A. 2016. CYP2R1 mutations causing vitamin D-deficiency rickets. In The Journal of steroid biochemistry and molecular biology, 173, 333-336. doi:10.1016/j.jsbmb.2016.07.014. https://pubmed.ncbi.nlm.nih.gov/27473561/
2. Bikle, Daniel D. 2014. Vitamin D metabolism, mechanism of action, and clinical applications. In Chemistry & biology, 21, 319-29. doi:10.1016/j.chembiol.2013.12.016. https://pubmed.ncbi.nlm.nih.gov/24529992/
3. Christakos, Sylvia, Dhawan, Puneet, Verstuyf, Annemieke, Verlinden, Lieve, Carmeliet, Geert. . Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects. In Physiological reviews, 96, 365-408. doi:10.1152/physrev.00014.2015. https://pubmed.ncbi.nlm.nih.gov/26681795/
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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest