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| Nomenclature |
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Symbol:
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Gbatm3Ggb
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Name:
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glucosidase, beta, acid;
targeted mutation 3, Gregory A Grabowski
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MGI ID: |
MGI:2680324 |
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Synonyms: |
D409H |
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Gene:
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Gba
Location:
Chr3:89202928-89208681 bp, + strand
Genetic Position: Chr3,
39.01 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:86334
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S5/SvEvBrd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A floxed PGK-neomycin resistance gene was inserted into intron 8 and an G to C point mutation was inserted at position 1365 (GenBank M24119) in exon 9 causing a D to H amino acid substitution at residue 409. The neomycin gene was then removed using a protamine promoter driven cre recombinase transgene active in spermatogonia of male chimeric mice. (J:86334)
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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 Gba Mutation:
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10 strains or lines available |
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| References |
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Original: |
J:86334
Xu YH et al.,
"Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease."
Am J Pathol 2003 Nov;163(5):2093-101
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All: |
7 reference(s)
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Analysis Tools
