About   Help   FAQ
Targeted Allele Detail
Symbol: Agatm1Pltn
Name: aspartylglucosaminidase; targeted mutation 1, Leena Peltonen
MGI ID: MGI:2156980
Synonyms: AGA -
Gene: Aga  Location: Chr8:53511727-53523421 bp, + strand  Genetic Position: Chr8, 29.13 cM, cytoband B3
Germline Transmission:  Earliest citation of germline transmission: J:45587
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  11 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory