Phenotypes Associated with This Genotype

Genotype
MGI:2652424

• Allelic Composition: Galc^tm1Wngr/Galc^tm1Wngr
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

premature death ( J:78691 )

• death occurs at around the two months of age

behavior/neurological

tremors ( J:78691 )

• age of onset 25-30 days of age

hindlimb paralysis ( J:78691 )

• age of onset 25-30 days of age

growth/size/body

cachexia ( J:78691 )

• mice gain weight until around 35-40 days of age, maintain their weight for a few days, and then begin to lose weight and die 10-15 days later

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:78691 )

• low galactocerebrosidase activity measure in brain, liver, spleen, heart, and kidney

immune system

abnormal immune system physiology ( J:78691 )

• macrophage infiltration was noted in cerebellar white matter, brainstem, cerebral white matter, cerebral gray matter and peripheral nerve of a 49 day old mouse. infiltration was not as extensive as compared to a 36 day old twitcher mouse

nervous system

demyelination ( J:78691 )

• observed in cerebellar white matter, brainstem, cerebral white matter and cerebral gray matter

• observed in peripheral nerve of 49 day old mouse; described as moderate in comparison to a 36 day old twitcher mouse

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Krabbe disease		DOID:10587	OMIM:245200	J:78691