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Symbol
Name
ID
Hexb
hexosaminidase B
MGI:96074
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Orthostatic hypotension
Spasticity
CNS hypomyelination
Ataxia
Exaggerated startle response
Fasciculations
Upper motor neuron dysfunction
Dysarthria
Progressive psychomotor deterioration
Hyperreflexia
Developmental regression
Bilateral tonic-clonic seizure
Myoclonic seizure
Impaired temperature sensation
Disease(s) Associated with HEXB
Sandhoff disease

Mouse Phenotypes
abnormal seizure response to electrical stimulation
increased forebrain apoptosis
microgliosis
CNS inflammation
abnormal brain morphology
Purkinje cell degeneration
abnormal neuron morphology
abnormal spinal cord interneuron morphology
abnormal spinal cord morphology
neurodegeneration
abnormal nervous system physiology
Availability Mouse Genotype
Hexblysd/Hexblysd
Hexbtm1Grv/Hexbtm1Grv
Hexbtm1Rlp/Hexbtm1Rlp
Hexbtm1Rlp/Hexbtm1Rlp
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Hexbtm1Rlp/Hexbtm1Rlp
Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0

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
05/21/2024
MGI 6.23
The Jackson Laboratory