Phenotypes Associated with This Genotype

Genotype
MGI:3719077

• Allelic Composition: Neu1^a/Neu1^a
• Genetic Background: SM/J

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

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:43930 , J:147881 )

• deficient enzymatic activity of neuraminidase was reported (J:43930)

• tissue specific decrease in sialidase activity (J:147881)

growth/size/body

decreased body weight ( J:147881 )

• compared to C57BL/6 controls

liver/biliary system

abnormal Kupffer cell morphology ( J:147881 )

• cells contain large membrane bound bodies containing lipid droplets and membrane like structures that are not present in C57BL/6 controls

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:147881 )

• some epithelial cells accumulate large membrane-bound structures containing membranous whorls

• cells with high levels of membranous accumulations degenerate releasing cellular debris into the intercellular space and the lumen of the tubules

hematopoietic system

abnormal Kupffer cell morphology ( J:147881 )

• cells contain large membrane bound bodies containing lipid droplets and membrane like structures that are not present in C57BL/6 controls

immune system

abnormal Kupffer cell morphology ( J:147881 )

• cells contain large membrane bound bodies containing lipid droplets and membrane like structures that are not present in C57BL/6 controls

cardiovascular system

abnormal Kupffer cell morphology ( J:147881 )

• cells contain large membrane bound bodies containing lipid droplets and membrane like structures that are not present in C57BL/6 controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycoproteinosis		DOID:3343	OMIM:256550	J:77236