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| Nomenclature |
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Symbol:
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Gaatm2Rabn
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Name:
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glucosidase, alpha, acid;
targeted mutation 2, Nina Raben
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MGI ID: |
MGI:2179960 |
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Synonyms: |
delta14neo |
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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:76435
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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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: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
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All: |
2 reference(s)
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Analysis Tools
