Tg(Rho-GUCY2D*R838S)362Amd
Transgene Detail

Summary

• Symbol: Tg(Rho-GUCY2D*R838S)362Amd
• Name: transgene insertion 362, Alexander Dizhoor
• MGI ID: MGI:5908882
• Transgene: Tg(Rho-GUCY2D*R838S)362Amd Location: unknown
• Alliance: Tg(Rho-GUCY2D*R838S)362Amd page

Transgene origin

• Strain of Origin: (C57BL/6 x SJL)F2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Rho-GUCY2D*R838S)362Amd expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  GUCY2D (3000)

  Gucy2e

  (MGI:105123)

  point mutation results in the amino acid substitution of serine for arginine at position 838

• Mutation details: The transgene contains a 4.2-kbp mouse rod opsin gene fragment (harboring the promoter region and the 0.3-kb BGH polyadenylation signal-containing fragment) driving retinal expression of the human gene carrying a point mutation coding for the amino acid substitution of serine for arginine at position 838 (R838S). Lines 379 (slow) and 362 (faster) were generated. (J:237633)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:237633 Dizhoor AM, et al., The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. J Biol Chem. 2016 Nov 18;291(47):24504-24516
• All: 2 reference(s)