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Symbol
Name
ID
Psat1
phosphoserine aminotransferase 1
MGI:2183441
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Secondary microcephaly
Decreased CSF glycine concentration
Decreased CSF serine concentration
Ventriculomegaly
Lissencephaly
Cerebellar vermis hypoplasia
Cerebellar hypoplasia
Spina bifida
Myoclonus
Global developmental delay
Seizure
Disease(s) Associated with PSAT1
Neu-Laxova syndrome 2
PSAT deficiency

Mouse Phenotypes
exencephaly
Availability Mouse Genotype
Psat1tm1a(KOMP)Wtsi/Psat1tm1a(KOMP)Wtsi

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
04/30/2024
MGI 6.23
The Jackson Laboratory