Summary | Transgene origin | Transgene description | Phenotypes | Disease models | Find Mice (IMSR) | References

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

Strain of Origin:

(C57BL/6 x SJL)F2

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)

View phenotypes and curated references for all genotypes (concatenated display).

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

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)