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C57BL/6JCya-Tulp1em1flox/Cya
Common Name:
Tulp1-flox
Product ID:
S-CKO-19233
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tulp1-flox
Strain ID
CKOCMP-22157-Tulp1-B6J-VB
Gene Name
Tulp1
Product ID
S-CKO-19233
Gene Alias
Tulp1l
Background
C57BL/6JCya
NCBI ID
22157
Modification
Conditional knockout
Chromosome
17
Phenotype
MGI:109571
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-Tulp1em1flox/Cya mice (Catalog S-CKO-19233) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000041819
NCBI RefSeq
NM_021478
Target Region
Exon 6~8
Size of Effective Region
~1.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
TULP1, or tubby-like protein 1, is a photoreceptor-specific protein. It is crucial for protein trafficking in photoreceptor cells, likely acting as an adapter molecule linking vesicles to molecular motors and the cytoskeletal scaffold. It is involved in the vesicular trafficking of several photoreceptor proteins from the inner segment to the outer segment, and is associated with maintaining the proper localization of proteins like PRCD to photoreceptor outer segment discs [2,3].

In zebrafish, knockout models have been generated. Knockout of tulp1a led to mislocalization of UV cone opsins and UV cone degeneration, while knockout of tulp1b caused mislocalization of rod opsins and rod-cone degeneration. The double knockout (tulp1-dKO) zebrafish had opsin mislocalization in all photoreceptor types and severe early-onset degeneration. In tulp1-dKO zebrafish, photoreceptor cilium length was reduced, and the expression of tektin2 (a ciliary and flagellar microtubule structural component) was downregulated, suggesting that Tulp1 may transcriptionally activate the tekt2 promoter. Also, ferroptosis might be activated in tulp1-dKO zebrafish, as indicated by up-regulation of ferroptosis-related genes, mitochondrial changes, and iron and lipid droplet deposition in the retina [1].

In conclusion, TULP1 is essential for normal photoreceptor function, especially in protein trafficking and ciliogenesis. The zebrafish knockout models have revealed that loss of TULP1 can lead to cilia structure defects, opsin trafficking problems, and ultimately photoreceptor death via ferroptosis. These findings contribute to understanding the pathogenesis of early-onset retinal degeneration, a disease associated with TULP1 mutations [1].

References:
1. Jia, Danna, Gao, Pan, Lv, Yuexia, Liu, Mugen, Ren, Xiang. 2022. Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish. In Cell death & disease, 13, 962. doi:10.1038/s41419-022-05372-w. https://pubmed.ncbi.nlm.nih.gov/36396940/
2. Ebke, Lindsey A, Sinha, Satyabrata, Pauer, Gayle J T, Hagstrom, Stephanie A. 2021. Photoreceptor Compartment-Specific TULP1 Interactomes. In International journal of molecular sciences, 22, . doi:10.3390/ijms22158066. https://pubmed.ncbi.nlm.nih.gov/34360830/
3. Remez, Lital, Cohen, Ben, Nevet, Mariela J, Rizel, Leah, Ben-Yosef, Tamar. 2020. TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments. In International journal of molecular sciences, 21, . doi:10.3390/ijms21228677. https://pubmed.ncbi.nlm.nih.gov/33213002/
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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