Stanford Home
Ovarian Kaleidoscope Database (OKdb)



Transgenic Mouse Models



Hsueh lab


since 01/2001:

chromosome transmission fidelity factor 18 OKDB#: 3765
 Symbols: CHTF18 Species: human
 Synonyms: CHL12, Ctf18, RUVBL, C16orf41, C321D2.2, C321D2.3, C321D2.4  Locus: 16p13.3 in Homo sapiens

For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
Mammalian Reproductive Genetics   Endometrium Database Resource   Orthologous Genes   UCSC Genome Browser   GEO Profiles new!   Amazonia (transcriptome data) new!


DNA Microarrays
link to BioGPS
General Comment NCBI Summary: This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
General function Chromosome organization
Cellular localization Nuclear
Ovarian function
Expression regulated by
Ovarian localization Primordial Germ Cell, Oocyte
Comment Germline Expression of Mammalian CTF18, an Evolutionarily Conserved Protein Required for Germ Cell Proliferation in the Fly and Sister Chromatid Cohesion in Yeast. Berkowitz KM et al. Cutlet/CTF18 encodes an evolutionarily conserved protein that is crucial for germline development in Drosophila melanogaster. Loss of function of cutlet in the fly results in a sterile phenotype due to the failure of germline stem cells to proliferate. CTF18 was first identified in Saccharomyces cerevisiae as a sister chromatid cohesion factor that is essential for the faithful transmission of chromosomes during DNA replication. We have cloned and characterized the human and mouse CTF18 orthologues of the Drosophila melanogaster gene, cutlet. We have demonstrated that CTF18 mRNA is expressed in human and mouse testis and ovary, and that CTF18 protein is expressed throughout the male and female germline of the mouse. We suggest a unique biological role for CTF18 in mammalian germ cell development based on its mammalian germline expression, high degree of evolutionary conservation, and role in DNA replication and chromosomal stability in yeast.
Follicle stages
Mutations 1 mutations

Species: mouse
Mutation name:
type: null mutation
fertility: subfertile
Comment: CHTF18 ensures the quantity and quality of the ovarian reserve†. Holton RA et al. (2020) The number and quality of oocytes, as well as the decline in both of these parameters with age, determines reproductive potential in women. However, the underlying mechanisms of this diminution are incompletely understood. Previously, we identified novel roles for CHTF18 (Chromosome Transmission Fidelity Factor 18), a component of the conserved Replication Factor C-like complex, in male fertility and gametogenesis. Currently, we reveal crucial roles for CHTF18 in female meiosis and oocyte development. Chtf18-/- female mice are subfertile and have fewer offspring beginning at 6 months of age. Consistent with age-dependent subfertility, Chtf18-/- ovaries contain fewer ovarian follicles at all stages of follicle development, but the decreases are more significant at three and six months of age. By six months of age there are marked reductions of both primordial and growing ovarian follicle pools in Chtf18-/- females. Chromosomal synapsis in Chtf18-/- oocytes is complete but meiotic recombination is impaired resulting in increased DNA double-strand breaks and fewer DNA crossovers, and early homolog disjunction during meiosis I. Consistent with poor oocyte quality, the majority of Chtf18-/- oocytes fail to progress to metaphase II following meiotic resumption and a significant percentage of those that do progress are aneuploid. Collectively, our findings indicate critical functions for CHTF18 in ensuring both the quantity and quality of the mammalian oocyte pool.//////////////////

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
Search for Antibody

created: Feb. 13, 2008, 9:57 a.m. by: hsueh   email:
home page:
last update: April 1, 2020, 3:07 p.m. by: hsueh    email:

Use the back button of your browser to return to the Gene List.

Click here to return to gene search form