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Symbol
Name
ID
Sumf1
sulfatase modifying factor 1
MGI:1889844
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Increased CSF protein concentration
Spasticity
CNS demyelination
Peripheral demyelination
Hydrocephalus
Ventriculomegaly
Abnormal periventricular white matter morphology
Cerebral atrophy
Cerebellar atrophy
Ataxia
Rapid neurologic deterioration
Intellectual disability
Lower limb hyperreflexia
Global developmental delay
Disease(s) Associated with SUMF1
mucosulfatidosis

Mouse Phenotypes
seizures
increased neuron apoptosis
abnormal microglial cell morphology
CNS inflammation
abnormal cerebellar cortex morphology
decreased Purkinje cell number
abnormal astrocyte morphology
Availability Mouse Genotype
Sumf1Gt(RST760)Byg/Sumf1Gt(RST760)Byg

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