Symbol Name ID |
Hexb
hexosaminidase B MGI:96074 |
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 |
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Availability | Mouse Genotype | |||||||||||
Hexblysd/Hexblysd | ||||||||||||
Hexbtm1Grv/Hexbtm1Grv | ||||||||||||
Hexbtm1Rlp/Hexbtm1Rlp | ||||||||||||
Hexbtm1Rlp/Hexbtm1Rlp Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0 |
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Hexbtm1Rlp/Hexbtm1Rlp Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0 |
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 |
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