Phenotypes Associated with This Genotype

Genotype
MGI:2651509

• Allelic Composition: Naglu^tm1Efn/Naglu^tm1Efn
• Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

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

Abnormal inclusions in tissues of Naglu^tm1Efn/Naglu^tm1Efn mice

mortality/aging

premature death ( J:58950 )

• homozygotes survive to 8-12 months

• appear normal, healthy, and fertile up to 6 months of age

behavior/neurological

increased anxiety-related response ( J:58950 )

• suppressed open field activity in mice over 4.5 months of age

decreased fear-related response ( J:58950 )

• older mice demonstrate a reduced freezing response to the tone used in fear tests

abnormal locomotor behavior ( J:58950 )

• difficulty walking after about 6 months of age

growth/size/body

weight loss ( J:58950 )

• weight loss starts to occur at some time after 6 months of age

distended abdomen ( J:58950 )

• after 6 months of age

hematopoietic system

abnormal macrophage morphology ( J:58950 )

• by 33 days of age, vacuolated macrophages are found in many organs

• vacuolated macrophages become more widely distributed with age to 6 months

abnormal Kupffer cell morphology ( J:58950 )

• Kupffer cells are ballooned and contain very few large inclusions

immune system

abnormal macrophage morphology ( J:58950 )

• by 33 days of age, vacuolated macrophages are found in many organs

• vacuolated macrophages become more widely distributed with age to 6 months

abnormal Kupffer cell morphology ( J:58950 )

• Kupffer cells are ballooned and contain very few large inclusions

liver/biliary system

abnormal Kupffer cell morphology ( J:58950 )

• Kupffer cells are ballooned and contain very few large inclusions

abnormal hepatocyte morphology ( J:58950 )

• hepatocytes contain many large vacuoles

renal/urinary system

abnormal podocyte morphology ( J:58950 )

• vacuolated glomerular epithelial cells seen by 33 days of age

• extent of vacuolation increases with age to at least 6 months

abnormal renal tubule epithelium morphology ( J:58950 )

• by 33 days of age, epithelial cells are vacuolated in distal but not proximal convoluted tubules, and in Henle's loop

• at 3 to 6 months of age, more prominent vacuolation is seen in tubular epithelial cells as well as interstitial cells

• however, mesangial cells are not vacuolated

ischuria ( J:58950 )

• urinary retention in the bladder starting at 6 months of age

nervous system

abnormal midbrain morphology ( J:58950 )

abnormal pons morphology ( J:58950 )

• some vacuolated neurons

abnormal diencephalon morphology ( J:58950 )

• neurons in the thalamus and the hypothalamus with vacuoles

abnormal amygdala morphology ( J:58950 )

• some vacuolated neurons

abnormal cerebral cortex morphology ( J:58950 )

• some areas of the cortex contain vacuolated neurons

abnormal accessory olfactory bulb morphology ( J:58950 )

• accessory olfactory bulb with vacuolated neurons

abnormal olfactory bulb morphology ( J:58950 )

• olfactory bulb with vacuolated neurons

abnormal cerebellum deep nucleus morphology ( J:58950 )

• neurons of cerebellar nuclei containing one or more inclusions similar to those found in Purkinje cells

abnormal neuron morphology ( J:58950 )

• by 33 days of age, some neurons in various regions of the brain become vacuolated

• extent of vacuolation increases with age

abnormal Purkinje cell morphology ( J:58950 )

• rather than vacuoles cells may contain one or more large periodic acid/Schiff positive inclusions

cardiovascular system

abnormal Kupffer cell morphology ( J:58950 )

• Kupffer cells are ballooned and contain very few large inclusions

integument

disheveled coat ( J:58950 )

• after 6 months of age

spontaneous skin ulceration ( J:58950 )

• skin ulceration around the genitalia occurs after 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis III		DOID:12801	OMIM:252940	J:58950