STOCK Aga^tm1Vk/J

Stock number: 003463
Product name: Aga-
Research areas: Neurobiology Research

Description

These Aga knock-out mice exhibit normal early development which slowly progresses to severe mental and motor retardation in early adulthood. They are suitable for use in applications related to the study of the human lysosomal disease aspartylglycosaminuria.

Detailed description

Mice with a null Aga gene, which encodes the lysosomal enzyme glycosylasparaginase, exhibit normal early development which slowly progresses to severe mental and motor retardation in early adulthood. At 5-10 months of age, massive accumulation of glycoaspartylglucosamine can be detected along with lysosomal vacuolization, axonal swelling in the gracile nucleus and impaired neuromotor coordination. After 10 months of age, there is progressive motor impairment and impaired bladder function and premature death. The mutant mice loose fertility earlier than the wild type siblings.

Allele

Symbol: Aga^tm1Vk
Name: targeted mutation 1, Vesa Kaartinen
MGI accession ID: MGI:1861793
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Aga-; AGU
Marker symbol: Aga
Marker name: aspartylglucosaminidase
Marker synonyms: AGU; ASRG; GA
Chromosome: 8
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: A neomycin selection cassette was inserted into the coding sequences in exon 3. Northern blot analysis and RT-PCR demonstrated that no detectable transcript is produced from this allele. Enzyme activity assays on liver and brain extracts of homozygous mice confirmed that no functional protein is made from this allele.