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Targeted Allele Detail
Symbol: Gaatm1Rabn
Name: glucosidase, alpha, acid; targeted mutation 1, Nina Raben
MGI ID: MGI:2148550
Synonyms: 6neo, Gaa-
Gene: Gaa  Location: Chr11:119267887-119285454 bp, + strand  Genetic Position: Chr11, 83.35 cM, cytoband D-E
Abnormal lysosomal glycogen storage in heart and skeletal muscle of Gaatm1Rabn/Gaatm1Rabn mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:48839
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsInsertion of a neomycin cassette into floxed exon 6. No transcript derived from this gene was detected in skeletal muscle of homozygous mice by RT-PCR analysis, and no encoded protein was detected by Western blot in liver extracts from homozygous mice. (J:48839)
View phenotypes and curated references for all genotypes (concatenated display).
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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 Gaa Mutation:  29 strains or lines available
Original:  J:48839 Raben N, et al., Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem. 1998 Jul 24;273(30):19086-92
All:  37 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 6.11
The Jackson Laboratory