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Phenotypes Associated with This Genotype
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agatm1Pltn mutation (1 available); any Aga mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygous mutants were viable and fertile, and displayed normal behavior and movement up to 11 months of age
• both young and aged homozygotes displayed normal motor performance during swimming
• aged homozygotes did not perform quite as well as control mice in the Morris water maze hidden platform test, indicating a defect in spatial learning and memory
• homozygotes exhibited slow worsening of performance with age

• at 6 weeks, mutants displayed accumulation of hypertrophic storage lysosomes in the brain, liver, kidney and skin
• extensive accumulation of storage lysosomes was already evident pre-natally
• vacuolized lysosomes were evident in the livers of homozygous fetuses at 19 days, whereas only few, small vacuoles were detectable in fetuses of 14 days; in contrast, cells in brain sections of 19 day fetuses showed only scanty small vacuoles, whereas in 6-week-old mice the vacuolization in brain cells was extensive
• the diameter of storage lysosomes varied from 0.2 to 4 m in most organs, and up to 8 m in the liver
• in brain, lysosomal storage vacuoles were detected in the neurons and glia of the neocortical and cortical regions

• at 4-7 months, mutant mice of both sexes had body weights 20% higher than age-matched control littermates

• as a result of complete enzyme deficiency, mutants excreted aspartylglucosamine in their urine

renal/urinary system
• as a result of complete enzyme deficiency, mutants excreted aspartylglucosamine in their urine

nervous system
• MRI images of living homozygotes revealed signal intensity changes, including enlarged cerebrospinal fluid spaces and hypointensity of the deep gray matter structures
• atrophy of the cerebral hemispheres resulted in enlarged ventricles
• atrophy of the cerebral hemispheres

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
aspartylglucosaminuria DOID:0050461 OMIM:208400

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.10
The Jackson Laboratory