Symbol Name ID |
B4galnt1
beta-1,4-N-acetyl-galactosaminyl transferase 1 MGI:1342057 |
Darker colors indicate more annotations |
Human Phenotypes | Pseudobulbar paralysis |
Lower limb spasticity |
Spastic paraplegia |
Upper limb spasticity |
Spastic gait |
Difficulty walking |
Frequent falls |
Cerebral cortical atrophy |
Hyperintensity of cerebral white matter on MRI |
Abnormal cerebellum morphology |
Ataxia |
Dysmetria |
Babinski sign |
Dysarthria |
Emotional lability |
Intellectual disability |
Intellectual disability, mild |
Hyperreflexia |
Hyporeflexia |
Dyskinesia |
Dystonia |
Gait disturbance |
Tip-toe gait |
Sensorimotor neuropathy |
Impaired vibratory sensation |
Impaired vibration sensation at ankles |
Disease(s) Associated with B4GALNT1 | ||||||||||||||||||||||||||
hereditary spastic paraplegia 26 |
Mouse Phenotypes | abnormal nervous system physiology |
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Availability | Mouse Genotype | |
B4galnt1tm1Sia/B4galnt1tm1Sia |
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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