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Gaatm1.1Rabn
Targeted Allele Detail
Nomenclature
Symbol: Gaatm1.1Rabn
Name: glucosidase, alpha, acid; targeted mutation 1.1, Nina Raben
MGI ID: MGI:2179955
Synonyms: delta6
Gene: Gaa  Location: Chr11:119267887-119285454 bp, + strand  Genetic Position: Chr11, 83.35 cM, cytoband D-E
Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaatm1.1Rabn/Gaatm1.1Rabn mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:48839
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThis allele is a derivative of Gaatm1Rabn in which Cre-mediated recombination in vivo excised the disrupted exon 6 and the neo gene under control of an adenovirus EIIa promoter, which confines the expression of Cre recombinase to an early stage of preimplantation development. RT-PCR analysis of muscle detected transcript produced by this allele of the size expected with exon 6 removed. Western blot analysis using rabbit antiserum to the human placental protein did not detect protein in liver from homozygous mutant mice. (J:48839)
Phenotypes
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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: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:  5 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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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory