Tg(Rho-GUCY2D*R838S)379Amd
Transgene Detail

Summary

• Symbol: Tg(Rho-GUCY2D*R838S)379Amd
• Name: transgene insertion 379, Alexander Dizhoor
• MGI ID: MGI:5908875
• Synonyms: R838S RetGC1
• Transgene: Tg(Rho-GUCY2D*R838S)379Amd Location: unknown
• Alliance: Tg(Rho-GUCY2D*R838S)379Amd 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)379Amd 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 (C to A) coding for the amino acid substitution of serine for arginine at position 838 (R838S). Lines 377 (similar to 379), 379 (slow phenotype appearance) and 362 (faster phenotype appearance) 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)