Phenotypes Associated with This Genotype

Genotype
MGI:3581423

• Allelic Composition: Glb1^tm1Adz/Glb1^tm1Adz
• Genetic Background: involves: 129/Sv * C57BL/6

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

nervous system

abnormal brainstem morphology ( J:98543 )

• increased total ganglioside content in the cerebellum and cerebrum-brainstem

• N-butyldeoxygalacto-nojirimycin (NB-DGJ), an imino sugar that inhibits ganglioside biosynthesis, significantly reduced total ganglioside and GM1 content when administered from P9-P15

abnormal cerebellum morphology ( J:98543 )

• increased total ganglioside content in the cerebellum and cerebrum-brainstem

• N-butyldeoxygalacto-nojirimycin (NB-DGJ), an imino sugar that inhibits ganglioside biosynthesis, significantly reduced total ganglioside and GM1 content when administered from P9-P15

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
GM1 gangliosidosis		DOID:3322		J:98543