Phenotypes Associated with This Genotype

Genotype
MGI:3581421

• Allelic Composition: Glb1^tm1Adz/Glb1^tm1Adz
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal brain morphology ( J:38620 )

• accumulation of G_M1-ganglioside and GA1 in the brain, however did not see any abnormalities in content or distribution of other lipids

• amount of brain ganglioside sialic acid and G_M1-ganglioside increased rapidly and dramatically from 3 weeks to 3.5 months of age

abnormal neuron morphology ( J:38620 )

• exhibited swollen neurons containing storage materials throughout the brain as early as 3 weeks of age

• by 5 weeks, neuron storage was seen in almost all neurons in the cerebrum, cerebellum, brainstem, spinal cord, and dorsal root ganglia

behavior/neurological

tremors ( J:38620 )

• apparent in older mice

ataxia ( J:38620 )

• apparent in older mice

abnormal gait ( J:38620 )

• apparent in older mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
GM1 gangliosidosis		DOID:3322		J:38620