Aga^tm1Vk
Targeted Allele Detail

Summary

• Symbol: Aga^tm1Vk
• Name: aspartylglucosaminidase; targeted mutation 1, Vesa Kaartinen
• MGI ID: MGI:1861793
• Synonyms: Aga-, AGU
• Gene: Aga Location: Chr8:53964762-53976456 bp, + strand Genetic Position: Chr8, 29.13 cM, cytoband B3
• Alliance: Aga^tm1Vk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:37022
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: 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. (J:37022)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Aga Mutation: 17 strains or lines available

References

• Original: J:37022 Kaartinen V, et al., A mouse model for the human lysosomal disease aspartylglycosaminuria. Nat Med. 1996 Dec;2(12):1375-8
• All: 5 reference(s)