Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Agatm1Pltn
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:	Agatm1Pltn page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)