Gba1tm1.1Smoc
Targeted Allele Detail
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Symbol: |
Gba1tm1.1Smoc |
Name: |
glucosylceramidase beta 1; targeted mutation 1.1, Shanghai Model Organisms Center |
MGI ID: |
MGI:7484418 |
Synonyms: |
Gba1F213I |
Gene: |
Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
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Alliance: |
Gba1tm1.1Smoc page
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Germline Transmission: |
Earliest citation of germline transmission:
J:325557
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6J
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: Exons 5-7 (and intervening introns) were replaced with the human equivalents where exon 6 has a p.Phe252Ile (or p.F213I) mutation (NM_000157.4:c.754T>A). The FRT site flanked neomycin resistance gene cassette that was inserted was removed through subsequent Flp-mediated recombination. The human mutation is associated with Gaucher disease (GD).
(J:325557)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Gba1 Mutation: |
43 strains or lines available
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Original: |
J:325557 Guo JN, et al., Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation. Front Genet. 2022;13:892457 |
All: |
1 reference(s) |
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