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| Nomenclature |
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Symbol:
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Tg(CAG-RPS19*R62W)#Dmb
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Name:
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transgene insertion, David M Bodine
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MGI ID: |
MGI:4839313 |
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Synonyms: |
RPS19R62W |
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Transgene:
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Tg(CAG-RPS19*R62W)#Dmb
Location:
unknown
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Transgene
origin |
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: The transgene contains (in 5' to 3' order): the chicken beta-globin HS4 insulator (cHS4), CAG promoter, floxed neo stop cassette, human cDNA with nucleotide substitution resulting in the amino acid substitution of tryptophan for arginine at position 62 (R62W), the 3' end of the human gamma globin gene (52 bp of exon 2, IVS2, exon 3, and 3' UTR), and a second chicken beta-globin HS4 insulator (cHS4). The amino acid substitution is predicted to produce a dominant negative protein. Two lines were generated J and K with 4 and 1 copies, respectively. No line designation is indicated by #. (J:165876)
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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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| References |
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Original: |
J:165876
Devlin EE et al.,
"A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia."
Blood 2010 Oct 14;116(15):2826-35
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All: |
1 reference(s)
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Analysis Tools
