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Targeted Allele Detail
Symbol: Agatm1Pltn
Name: aspartylglucosaminidase; targeted mutation 1, Leena Peltonen
MGI ID: MGI:2156980
Synonyms: AGA -
Gene: Aga  Location: Chr8:53511702-53523421 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 for all genotypes (concatenated display).
Disease models
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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:  2 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory