User:Rockpocket/MGP/MTHFD1L

Model organisms
Model organisms have been used in the study of MTHFD1L function. A conditional knockout mouse line, called Mthfd1ltm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and two significant abnormalities were observed. The homozygous mutant embryos identified during gestation had exencephaly. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no further abnormalities were observed.