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C57BL/6JCya-Fem1aem1/Cya
Common Name:
Fem1a-KO
Product ID:
S-KO-02030
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Fem1a-KO
Strain ID
KOCMP-14154-Fem1a-B6J-VA
Gene Name
Fem1a
Product ID
S-KO-02030
Gene Alias
Eprap; Fem1aa
Background
C57BL/6JCya
NCBI ID
14154
Modification
Conventional knockout
Chromosome
17
Phenotype
MGI:1335089
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-Fem1aem1/Cya mice (Catalog S-KO-02030) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000060253
NCBI RefSeq
NM_010192
Target Region
Exon 1
Size of Effective Region
~3.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Fem1a, the human homologs of which are FEM1A, FEM1B, and FEM1C, is a gene with multiple functions. It is involved in the sex determination pathway in Caenorhabditis elegans and may have a related role in mammalian hedgehog signaling [2,3]. Fem1a proteins are substrate recognition subunits of CUL2-RING E3 ubiquitin ligase complexes, regulating the degradation of certain proteins like Stem-Loop Binding Protein (SLBP) [4].

In Rhabdomyosarcoma (RMS), Fem1a expression is downregulated in human RMS cell lines and in primary RMS from multiple mouse genetic models such as Ptch1+/-, p53-/-, p53+/-;Ptch1+/-, and HGF/SF-Ink4a/Arf-/- mice, suggesting its potential role in RMS pathogenesis [2]. In polycystic ovary syndrome (PCOS), certain FEM1A single nucleotide polymorphisms (SNPs) are associated with PCOS and related phenotypes. For example, SNPs rs8111933 and rs12460989 are associated with an increased likelihood of PCOS, while rs1044386 is associated with a reduced probability [1]. In Chinese Han patients, specific genotypes of FEM1A gene loci rs12460989 and rs8111933 are associated with PCOS and may be risk factors for hyperandrogenism and insulin resistance [5].

In conclusion, Fem1a plays important roles in processes related to muscle-associated diseases like RMS and in endocrine disorders such as PCOS. Mouse genetic models have been valuable in revealing its role in RMS, showing consistent downregulation in primary RMS. In PCOS, genetic studies on FEM1A have identified SNPs and genotypes associated with the disease, providing insights into its potential contribution to PCOS pathogenesis.

References:

1. Goodarzi, M O, Maher, J F, Cui, J, Taylor, K D, Azziz, R. 2008. FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome. In Human reproduction (Oxford, England), 23, 2842-9. doi:10.1093/humrep/den324. https://pubmed.ncbi.nlm.nih.gov/18757445/

2. Ventura-Holman, Tereza, Hahn, Heidi, Subauste, Jose S, Maher, Joseph F. 2005. The Fem1a gene is downregulated in Rhabdomyosarcoma. In Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 26, 294-9. doi:. https://pubmed.ncbi.nlm.nih.gov/16254458/

3. Krakow, D, Sebald, E, King, L M, Cohn, D H. . Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene. In Gene, 279, 213-9. doi:. https://pubmed.ncbi.nlm.nih.gov/11733146/

4. Dankert, John F, Pagan, Julia K, Starostina, Natalia G, Kipreos, Edward T, Pagano, Michele. 2017. FEM1 proteins are ancient regulators of SLBP degradation. In Cell cycle (Georgetown, Tex.), 16, 556-564. doi:10.1080/15384101.2017.1284715. https://pubmed.ncbi.nlm.nih.gov/28118078/

5. Lin, Yuan, Sun, Yan. . [Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 29, 338-42. doi:10.3760/cma.j.issn.1003-9406.2012.03.020. https://pubmed.ncbi.nlm.nih.gov/22678803/

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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