C57BL/6JCya-Ptchd3em1flox/Cya
Common Name:
Ptchd3-flox
Product ID:
S-CKO-16084
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Ptchd3-flox
Strain ID
CKOCMP-74675-Ptchd3-B6J-VA
Gene Name
Product ID
S-CKO-16084
Gene Alias
4930451E13Rik; 4933440L20Rik; RNDEu-3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ptchd3em1flox/Cya mice (Catalog S-CKO-16084) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000036690
NCBI RefSeq
NM_029049
Target Region
Exon 2
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Ptchd3, or patched domain containing 3, is a gene with a conserved patched domain, potentially functioning as a membrane receptor for the hedgehog ligand [1,2,4]. It was previously identified as a male germ-cell specific gene, and its protein product is present on the surface of mouse, rat, and human sperm [1,2,4]. The Hedgehog signaling pathway, in which Ptchd3 may be involved, is crucial for various biological processes such as pattern formation, cell fate determination, proliferation, and differentiation [4].
Using a Ptchd3 knockout mouse model, studies found that Ptchd3 knockout mice were born and lived normally, with no change in male fertility and sperm production. Also, the expression levels of several hedgehog signaling genes were not affected in mutant testis, indicating that Ptchd3 is a non-essential gene in mouse development and spermatogenesis [1,2]. In human studies, homozygous deletions of PTCHD3 were found in some individuals without ASD or any other overt abnormal phenotype, suggesting that PTCHD3 may be a non-essential gene in some humans [3].
In conclusion, through model-based research, Ptchd3 appears to be non-essential in mouse development and spermatogenesis and may also be non-essential in some humans. The Ptchd3 knockout mouse models have contributed to understanding its non-essential role in these biological processes, and further research on PTCHD3 in humans may help clarify its role in normal biology and potential disease associations [1,2,3].
References:
1. González Morales, Shaimar R, Liu, Chengjing, Blankenship, Heath, Zhu, Guo-Zhang. 2020. Mouse Ptchd3 is a non-essential gene. In Gene, 763S, 100032. doi:10.1016/j.gene.2020.100032. https://pubmed.ncbi.nlm.nih.gov/34493359/
2. González Morales, Shaimar R, Liu, Chengjing, Blankenship, Heath, Zhu, Guo-Zhang. 2020. Mouse Ptchd3 is a non-essential gene. In Gene: X, 5, 100032. doi:10.1016/j.gene.2020.100032. https://pubmed.ncbi.nlm.nih.gov/32550558/
3. Ghahramani Seno, Mohammad M, Kwan, Benjamin Y M, Lee-Ng, Ka Ki M, Marshall, Christian R, Scherer, Stephen W. 2011. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. In BMC medical genetics, 12, 45. doi:10.1186/1471-2350-12-45. https://pubmed.ncbi.nlm.nih.gov/21439084/
4. Fan, Jun, Akabane, Hiroto, Zheng, Xuehai, Yang, Jing, Zhu, Guo-Zhang. 2007. Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3. In Biochemical and biophysical research communications, 363, 757-61. doi:. https://pubmed.ncbi.nlm.nih.gov/17904097/
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