Phenotypes Associated with This Genotype

Genotype
MGI:3043584

• Allelic Composition: Aga^tm1Pltn/Aga^tm1Pltn
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:45587 )

N • homozygous mutants were viable and fertile, and displayed normal behavior and movement up to 11 months of age

N • both young and aged homozygotes displayed normal motor performance during swimming

abnormal spatial learning ( J:45587 )

• 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

cellular

abnormal lysosome morphology ( J:45587 )

• 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

growth/size/body

increased body weight ( J:45587 )

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

homeostasis/metabolism

aspartylglucosaminuria ( J:45587 )

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

renal/urinary system

aspartylglucosaminuria ( J:45587 )

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

nervous system

abnormal brain ventricle morphology ( J:45587 )

• MRI images of living homozygotes revealed signal intensity changes, including enlarged cerebrospinal fluid spaces and hypointensity of the deep gray matter structures

enlarged brain ventricles ( J:45587 )

• atrophy of the cerebral hemispheres resulted in enlarged ventricles

abnormal cerebral hemisphere morphology ( J:45587 )

• atrophy of the cerebral hemispheres

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aspartylglucosaminuria		DOID:0050461	OMIM:208400	J:45587