Tina N. Tran

The paper evaluates the functional impact of missense variants in human reproductive genes using mouse models and finds that many predicted pathogenic variants do not cause detectable phenotypes.

The paper identifies MLH1/3 variants in mice that cause reproductive defects, including subfertility and increased pregnancy loss due to meiotic abnormalities.

The paper identifies a predicted deleterious SNP in the MND1 gene present in East Asians but shows it does not affect mouse fertility.

The paper models a human SPO11 variant in mice, showing it disrupts meiotic recombination, leading to reduced sperm and oocytes and fertility issues.

The paper creates a mouse model of a putative infertility allele, DMC1M200V, and finds it does not affect fertility in mice.