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Symbol
Name
ID

Mthfd1
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
MGI:1342005

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Aganglionic megacolon	Spinal dysraphism	Alzheimer disease	Intellectual disability	Gait disturbance	Developmental regression	Specific learning disability	Seizure	Impaired pain sensation
Disease(s) Associated with MTHFD1	Aganglionic megacolon	Spinal dysraphism	Alzheimer disease	Intellectual disability	Gait disturbance	Developmental regression	Specific learning disability	Seizure	Impaired pain sensation
Down syndrome
neural tube defect

Mouse Phenotypes		abnormal neural tube closure	open neural tube	kinked neural tube	wavy neural tube
Availability	Mouse Genotype
	Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23