C57BL/6JCya-Mkrn3em1/Cya
Common Name:
Mkrn3-KO
Product ID:
S-KO-20323
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Mkrn3-KO
Strain ID
KOCMP-22652-Mkrn3-B6J-VB
Gene Name
Product ID
S-KO-20323
Gene Alias
D7H15S9-1; Zfp127
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mkrn3em1/Cya mice (Catalog S-KO-20323) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000094340
NCBI RefSeq
NM_011746
Target Region
Exon 1
Size of Effective Region
~3.1 kb
Detailed Document
Overview of Gene Research
Mkrn3, or makorin ring finger protein 3, is an imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-13). It plays a crucial inhibitory role in the reproductive axis, acting as a key regulator of pubertal onset [5]. The onset of puberty depends on a decrease in factors inhibiting the release of gonadotropin-releasing hormone (GnRH), and Mkrn3 is involved in this regulatory pathway.
Loss-of-function mutations in Mkrn3 have been identified in patients with central precocious puberty (CPP), making it the most common known genetic cause of this condition [1,4,5,6,7]. In mouse models, deletion of Mkrn3 in hypothalamic neurons led to significant changes in genes controlling hypothalamic development and plasticity. Mkrn3 deletion in female mice resulted in early puberty onset, increased dendritic spines in the arcuate nucleus, and affected the regulation of neurokinin B (NKB) and insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) [2]. Also, MKRN3-mediated ubiquitination of Poly(A)-binding proteins (PABPs) affects the stability and translation of GNRH1 mRNA, controlling both transcriptional and post-transcriptional aspects of puberty initiation [3].
In conclusion, Mkrn3 is a key inhibitor of puberty onset. Its function is mainly revealed through the study of loss-of-function mutations in patients and gene knockout mouse models. These findings have important implications for understanding the etiology of central precocious puberty, providing insights into the genetic mechanisms underlying the normal and abnormal regulation of pubertal development.
References:
1. Palumbo, Stefania, Cirillo, Grazia, Aiello, Francesca, Miraglia Del Giudice, Emanuele, Grandone, Anna. 2022. MKRN3 role in regulating pubertal onset: the state of art of functional studies. In Frontiers in endocrinology, 13, 991322. doi:10.3389/fendo.2022.991322. https://pubmed.ncbi.nlm.nih.gov/36187104/
2. Naulé, Lydie, Mancini, Alessandra, Pereira, Sidney A, Abreu, Ana Paula, Kaiser, Ursula B. 2023. MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity. In JCI insight, 8, . doi:10.1172/jci.insight.164178. https://pubmed.ncbi.nlm.nih.gov/37092553/
3. Li, Chuanyin, Han, Tianting, Li, Qingrun, Wang, Feng, Hu, Ronggui. . MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty. In Nucleic acids research, 49, 3796-3813. doi:10.1093/nar/gkab155. https://pubmed.ncbi.nlm.nih.gov/33744966/
4. Naulé, Lydie, Kaiser, Ursula B. 2020. Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions. In Seminars in reproductive medicine, 37, 166-173. doi:10.1055/s-0039-3400965. https://pubmed.ncbi.nlm.nih.gov/31972861/
5. Abreu, Ana Paula, Macedo, Delanie B, Brito, Vinicius N, Kaiser, Ursula B, Latronico, Ana Claudia. . A new pathway in the control of the initiation of puberty: the MKRN3 gene. In Journal of molecular endocrinology, 54, R131-9. doi:10.1530/JME-14-0315. https://pubmed.ncbi.nlm.nih.gov/25957321/
6. Latronico, Ana Claudia, Brito, Vinicius Nahime, Carel, Jean-Claude. 2016. Causes, diagnosis, and treatment of central precocious puberty. In The lancet. Diabetes & endocrinology, 4, 265-274. doi:10.1016/S2213-8587(15)00380-0. https://pubmed.ncbi.nlm.nih.gov/26852255/
7. Aguirre, Rebecca Schneider, Eugster, Erica A. 2018. Central precocious puberty: From genetics to treatment. In Best practice & research. Clinical endocrinology & metabolism, 32, 343-354. doi:10.1016/j.beem.2018.05.008. https://pubmed.ncbi.nlm.nih.gov/30086862/
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