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Symbol
Name
ID
B4galnt1
beta-1,4-N-acetyl-galactosaminyl transferase 1
MGI:1342057
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
B4galnt1tm1Sia/B4galnt1tm1Sia

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