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Gaatm2Rabn
Targeted Allele Detail
Nomenclature
Symbol: Gaatm2Rabn
Name: glucosidase, alpha, acid; targeted mutation 2, Nina Raben
MGI ID: MGI:2179960
Synonyms: delta14neo
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:76435
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced approximately 1.3 kb of sequence, including exon 14. RT-PCR analysis of muscle using primers in exons 13 and 15 detected a low level of a truncated transcript in homozygous mutant mice, whereas RT-PCR studies using primers in exons 13 and 14 did not detect transcript in these mice. Western blot analysis of liver did not detect protein in homozygous mutant mice. (J:76435)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  29 strains or lines available
References
Original:  J:76435 Raben N, et al., Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene. Neuromuscul Disord. 2000 Jun;10(4-5):283-91
All:  2 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
05/15/2018
MGI 6.12
The Jackson Laboratory