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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  RPS19 (6223)

  Rps19

  (MGI:1333780)

• 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)

Disease models

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)