C57BL/6JCya-Itpr1em1/Cya
Common Name
Itpr1-KO
Product ID
S-KO-02719
Backgroud
C57BL/6JCya
Strain ID
KOCMP-16438-Itpr1-B6J-VA
Status
When using this mouse strain in a publication, please cite “Itpr1-KO Mouse (Catalog S-KO-02719) 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
Itpr1-KO
Strain ID
KOCMP-16438-Itpr1-B6J-VA
Gene Name
Product ID
S-KO-02719
Gene Alias
opt, Ip3r, P400, Pcp1, wblo, IP3R1, Pcp-1, D6Pas2, IP3R 1, InsP3R, Itpr-1, Gm10429, insP3R1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 6
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000032192
NCBI RefSeq
NM_010585
Target Region
Exon 4
Size of Effective Region
~1.1 kb
Overview of Gene Research
Itpr1, encoding the inositol 1,4,5-trisphosphate (IP3) receptor type 1 (IP3R1), is a crucial calcium ion channel involved in cerebellar intracellular calcium signaling [1,2,4]. It mediates calcium release from the endoplasmic reticulum and is essential for multiple biological processes, including craniofacial development, and is associated with various pathways related to cell function and development [1,2].
Pathogenic missense variants in Itpr1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), severe pontine/cerebellar hypoplasia, and may contribute to hemifacial microsomia spectrum [1,2]. In zebrafish, knockdown of itpr1b (homologous to human Itpr1) led to decreased craniofacial skeleton formation, highlighting its role in craniofacial development [2]. Mice lacking seven base pairs of the last Itpr1 exon exhibited ataxia and aniridia, with disrupted iris and corneal tissues, suggesting Itpr1's role in anterior eye segment formation [3].
In conclusion, Itpr1 is vital for intracellular calcium signaling and plays significant roles in craniofacial and anterior eye segment development. Its dysregulation, as revealed by loss-of-function studies in zebrafish and mouse models, is associated with multiple neurological and craniofacial disorders, providing insights into disease mechanisms and potential therapeutic targets.
References:
1. Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Becker, Esther B E, Németh, Andrea H. 2023. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. In Movement disorders : official journal of the Movement Disorder Society, 39, 141-151. doi:10.1002/mds.29651. https://pubmed.ncbi.nlm.nih.gov/37964426/
2. Liu, Zhixu, Sun, Hao, Dai, Jiewen, Sun, Jian, Wang, Xudong. 2021. ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum. In Frontiers in genetics, 12, 616329. doi:10.3389/fgene.2021.616329. https://pubmed.ncbi.nlm.nih.gov/33747042/
3. Kinoshita, Akira, Ohyama, Kaname, Tanimura, Susumu, Saitoh, Shinji, Yoshiura, Koh-Ichiro. 2021. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells. In Development (Cambridge, England), 148, . doi:10.1242/dev.188755. https://pubmed.ncbi.nlm.nih.gov/34338282/
4. Chesneau, Bertrand, Calvas, Patrick, Cassagne, Myriam, Fares-Taie, Lucas, Plaisancié, Julie. 2024. ITPR1: The missing gene in miosis-ataxia syndrome? In American journal of medical genetics. Part A, 194, e63655. doi:10.1002/ajmg.a.63655. https://pubmed.ncbi.nlm.nih.gov/38711238/
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
Contact Us
Connect with our experts for your custom animal model needs. Please fill out the form below to start a conversation or request a quote.
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.