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Symbol
Name
ID
Mthfd1
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
MGI:1342005
Phenotype annotations related to embryo
Darker colors indicate more annotations
Human Phenotypes
Thickened nuchal skin fold
Hydrops fetalis
Prenatal double bubble sign
Abnormal fetal nasal bone visualization
Disease(s) Associated with MTHFD1
developmental cardiac valvular defect
Down syndrome

Mouse Phenotypes
embryonic growth retardation
decreased embryo size
abnormal neural tube closure
open neural tube
kinked neural tube
wavy neural tube
impaired somite development
absent somites
abnormal tail bud morphology
small tail bud
Availability Mouse Genotype
Mthfd1tm1.1Rzn/Mthfd1tm1.1Rzn

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory