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Gaatm1Vdp
Targeted Allele Detail
Nomenclature
Symbol: Gaatm1Vdp
Name: glucosidase, alpha, acid; targeted mutation 1, Ans T van der Ploeg
MGI ID: MGI:2179961
Synonyms: AGLU-
Gene: Gaa  Location: Chr11:119267887-119285454 bp, + strand  Genetic Position: Chr11, 83.35 cM, cytoband D-E
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:45386
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neomycin resistance cassette into exon 13 disrupted the gene. RT-PCR studies of cultured tail cells using primers from exon 12 and exon 14 did not detect wild-type transcript in homozygous mutant mice. Enzyme activity assays of organs and cultured cells detected nearly no activity in homozygous mutant mice. Western blot analysis of several tissues using rabbit anti-human antibodies did not detect immunoprecipitated protein in homozygous mutant mice. (J:45386)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gaa Mutation:  9 strains or lines available
References
Original:  J:45386 Bijvoet AG, et al., Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet. 1998 Jan;7(1):53-62
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/24/2015
MGI 5.21
The Jackson Laboratory