Aga^tm1Pltn
Targeted Allele Detail

Summary

• Symbol: Aga^tm1Pltn
• Name: aspartylglucosaminidase; targeted mutation 1, Leena Peltonen
• MGI ID: MGI:2156980
• Synonyms: AGA -
• Gene: Aga Location: Chr8:53964762-53976456 bp, + strand Genetic Position: Chr8, 29.13 cM, cytoband B3
• Alliance: Aga^tm1Pltn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:45587
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin selection cassette replaced a genomic fragment containing 61 nucleotides of exon 8 and 450 nucleotides of intron 8. Northern blot and RT-PCR analysis demonstrated a larger, mutant transcript was produced from this allele. However, no functional protein could be detected in enzyme activity assays in liver and brain of homozygous mice. (J:45587)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:45587 Jalanko A, et al., Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb;7(2):265-72
• All: 4 reference(s)