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Tg(CAG-RPS19*R62W)#Dmb
Transgene Detail
Summary
Symbol: Tg(CAG-RPS19*R62W)#Dmb
Name: transgene insertion, David M Bodine
MGI ID: MGI:4839313
Synonyms: RPS19R62W
Transgene: Tg(CAG-RPS19*R62W)#Dmb  Location: unknown  
Alliance: Tg(CAG-RPS19*R62W)#Dmb page
Transgene
origin
Strain of Origin:  FVB/N
Transgene
description
Transgene Type:    Transgenic (Dominant negative, Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(CAG-RPS19*R62W)#Dmb expresses 1 gene
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
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
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory