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Symbol
Name
ID 		Mthfr
methylenetetrahydrofolate reductase
MGI:106639
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Intracranial hemorrhage
Intraventricular hemorrhage
Hypoglycemic seizures
Stroke
Ischemic stroke
Aganglionic megacolon
Anorexia
Dysphagia
Decreased response to growth hormone stimulation test
Ectopic posterior pituitary
Posterior pituitary hypoplasia
Anterior pituitary agenesis
Anterior pituitary hypoplasia
Ectopic anterior pituitary gland
Hypopituitarism
Anterior hypopituitarism
Abnormal prolactin level
Reduced circulating prolactin concentration
Gonadotropin deficiency
Panhypopituitarism
Pituitary hypothyroidism
Optic nerve hypoplasia
Septo-optic dysplasia
Photophobia
Meningitis
Spasticity
Fatigable weakness of bulbar muscles
Fatigable weakness of swallowing muscles
Fatigable weakness of respiratory muscles
Abnormality of the nervous system
Motor neuron atrophy
Amyotrophic lateral sclerosis
Agenesis of corpus callosum
Absent septum pellucidum
Holoprosencephaly
Spinal dysraphism
Spinal cord compression
Alzheimer disease
Neurodegeneration
Fasciculations
Paralysis
Babinski sign
EEG abnormality
Dysarthria
Language impairment
Depression
Emotional lability
Irritability
Delusion
Anxiety
Schizophrenia
Hallucinations
Atypical behavior
Negativism
Polydipsia
Polyphagia
Hyperactivity
Attention deficit hyperactivity disorder
Agitation
Phonophobia
Cognitive impairment
Frontotemporal dementia
Social and occupational deterioration
Intellectual disability
Sleep abnormality
Hyperreflexia
Jaw hyperreflexia
Gait disturbance
Headache
Migraine with aura
Migraine without aura
Developmental regression
Severe global developmental delay
Specific learning disability
Seizure
Impaired pain sensation
Paresthesia
Disease(s) Associated with MTHFR
amyotrophic lateral sclerosis
attention deficit hyperactivity disorder
cerebral infarction
Down syndrome
factor VIII deficiency
familial mediterranean fever
graft-versus-host disease
Graves' disease
hypopituitarism
migraine
multiple myeloma
neural tube defect
pancreatic cancer
schizophrenia
sickle cell anemia
type 1 diabetes mellitus

Mouse Phenotypes
delaminated Purkinje cell layer
abnormal cerebellar granule layer morphology
small cerebellum
Availability Mouse Genotype
Mthfrtm1Rzn/Mthfrtm1Rzn
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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory