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Symbol
Name
ID
Cbs
cystathionine beta-synthase
MGI:88285
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Intracranial hemorrhage
Microcephaly
Stroke
Anorexia
Morphological central nervous system abnormality
Spinal dysraphism
Incoordination
Hemiplegia/hemiparesis
Depression
Psychosis
Atypical behavior
Personality disorder
Cognitive impairment
Intellectual disability
Reduced consciousness
Gait disturbance
Gait imbalance
Headache
Global developmental delay
Seizure
Paresthesia
Disease(s) Associated with CBS
cerebral infarction
homocystinuria
malaria
neural tube defect

Mouse Phenotypes
abnormal Muller cell morphology
abnormal astrocyte morphology
increased astrocyte number
abnormal blood-retina barrier function
Availability Mouse Genotype
Cbstm1Unc/Cbs+

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
04/23/2024
MGI 6.23
The Jackson Laboratory