C57BL/6JCya-Pkd1l2em1/Cya
Common Name
Pkd1l2-KO
Product ID
S-KO-18611
Backgroud
C57BL/6JCya
Strain ID
KOCMP-76645-Pkd1l2-B6J-VB
Status
When using this mouse strain in a publication, please cite “Pkd1l2-KO Mouse (Catalog S-KO-18611) 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
Pkd1l2-KO
Strain ID
KOCMP-76645-Pkd1l2-B6J-VB
Gene Name
Product ID
S-KO-18611
Gene Alias
1700126L06Rik
Background
C57BL/6JCya
Gene Full Name
polycystic kidney disease 1 like 2
Modification
Conventional knockout
NCBI ID
Phenotype
Chromosome
Chr 8 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000098375
NCBI Transcript ID
NM_029686
Target Region
Exon 2~9
Size of Effective Region
~19.3 kb
Overview of Gene Research
Pkd1l2, encoding polycystin-1L2, is a member of the polycystin-1-like subfamily with various alternative splicing forms and two translation initiation sites. It has a small receptor for egg jelly domain, a G-protein-coupled receptor proteolytic site, and is predicted to act as a G-protein-coupled receptor [3]. Pkd1l2 may be involved in cation channel-related functions as it contains strong ion channel signature motifs [4].
In mouse models, upregulation of Pkd1l2 causes a complex neuromuscular disease including muscle atrophy, neuromuscular junction degeneration, and polyneuronal innervation. Ectopic expression in transgenic mice reproduced these myopathic changes, and a positive correlation was found between Pkd1l2 levels and disease severity. Pkd1l2 was shown to associate with endogenous fatty acid synthase in normal skeletal muscle, and abnormal lipid metabolism was observed in diseased mice [1]. Also, knocking out Pkd1l2 in mice along with 12 other ovary-enriched genes did not affect female fertility [2].
In conclusion, Pkd1l2 plays a role in maintaining neuromuscular integrity, as demonstrated by mouse models where its upregulation leads to neuromuscular diseases. Although Pkd1l2 is enriched in the ovary, its knockout alone does not impact female fertility. Understanding Pkd1l2's function contributes to the study of neuromuscular diseases and potentially other physiological processes [1,2].
References：
1. Mackenzie, Francesca E, Romero, Rosario, Williams, Debbie, Ribchester, Richard R, Blanco, Gonzalo. 2009. Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse. In Human molecular genetics, 18, 3553-66. doi:10.1093/hmg/ddp304. https://pubmed.ncbi.nlm.nih.gov/19578180/
2. Pham, Anh Hoang, Emori, Chihiro, Ishikawa-Yamauchi, Yu, Fujihara, Yoshitaka, Ikawa, Masahito. 2024. Thirteen Ovary-Enriched Genes Are Individually Not Essential for Female Fertility in Mice. In Cells, 13, . doi:10.3390/cells13100802. https://pubmed.ncbi.nlm.nih.gov/38786026/
3. Yuasa, Takeshi, Takakura, Ayumi, Denker, Bradley M, Venugopal, Bhuvarahamurthy, Zhou, Jing. . Polycystin-1L2 is a novel G-protein-binding protein. In Genomics, 84, 126-38. doi:. https://pubmed.ncbi.nlm.nih.gov/15203210/
4. Li, Airong, Tian, Xin, Sung, Si-Wook, Somlo, Stefan. . Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. In Genomics, 81, 596-608. doi:. https://pubmed.ncbi.nlm.nih.gov/12782129/
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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