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| Nomenclature |
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Symbol:
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Gaatm1Vdp
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Name:
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glucosidase, alpha, acid;
targeted mutation 1, Ans T van der Ploeg
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MGI ID: |
MGI:2179961 |
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Synonyms: |
AGLU- |
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Gene:
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Gaa
Location:
Chr11:119267887-119285454 bp, + strand
Genetic Position: Chr11,
83.35 cM, cytoband D-E
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:45386
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Insertion 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gaa Mutation:
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8 strains or lines available |
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
