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Phenotypes Associated with This Genotype
Genotype
MGI:2651509
Allelic
Composition
Naglutm1Efn/Naglutm1Efn
Genetic
Background
either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naglutm1Efn mutation (1 available); any Naglu mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal inclusions in tissues of Naglutm1Efn/Naglutm1Efn mice

mortality/aging
• homozygotes survive to 8-12 months
• appear normal, healthy, and fertile up to 6 months of age

behavior/neurological
• suppressed open field activity in mice over 4.5 months of age
• older mice demonstrate a reduced freezing response to the tone used in fear tests
• difficulty walking after about 6 months of age

growth/size/body
• weight loss starts to occur at some time after 6 months of age
• after 6 months of age

hematopoietic system
• by 33 days of age, vacuolated macrophages are found in many organs
• vacuolated macrophages become more widely distributed with age to 6 months
• Kupffer cells are ballooned and contain very few large inclusions

immune system
• by 33 days of age, vacuolated macrophages are found in many organs
• vacuolated macrophages become more widely distributed with age to 6 months
• Kupffer cells are ballooned and contain very few large inclusions

liver/biliary system
• Kupffer cells are ballooned and contain very few large inclusions
• hepatocytes contain many large vacuoles

renal/urinary system
• vacuolated glomerular epithelial cells seen by 33 days of age
• extent of vacuolation increases with age to at least 6 months
• 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
• urinary retention in the bladder starting at 6 months of age

nervous system
• some vacuolated neurons
• neurons in the thalamus and the hypothalamus with vacuoles
• some vacuolated neurons
• some areas of the cortex contain vacuolated neurons
• accessory olfactory bulb with vacuolated neurons
• olfactory bulb with vacuolated neurons
• neurons of cerebellar nuclei containing one or more inclusions similar to those found in Purkinje cells
• by 33 days of age, some neurons in various regions of the brain become vacuolated
• extent of vacuolation increases with age
• rather than vacuoles cells may contain one or more large periodic acid/Schiff positive inclusions

cardiovascular system
• Kupffer cells are ballooned and contain very few large inclusions

integument
• after 6 months of age
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory