Rho^{em2(RHO*)Bcgen}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rho^{em2(RHO*)Bcgen}
• Name: rhodopsin; endonuclease-mediated mutation 2, Biocytogen LLC
• MGI ID: MGI:7506601
• Synonyms: Mut-Rho^hum, RHO-5m
• Gene: Rho Location: Chr6:115908709-115916997 bp, + strand Genetic Position: Chr6, 53.72 cM
• Alliance: Rho^{em2(RHO*)Bcgen} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Rho^{em2(RHO*)Bcgen} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  RHO (6010)

  Rho	(MGI:97914)

  Contains 5 causative mutations seen in autosomal dominant retinitis pigmentosa patients

• Mutation details: Homology directed repair strategy combined with CRISPR/Cas9 technology introduced human RHO genomic fragment with five mutations that consists of the replacement of mouse exon 1 after the start codon to exon 5 before the stop codon and all introns by the human counterparts. The mutations are as follows: c.50C>T (p.T17M), c.152G>A (p.G51D), c.340G>C (p.G114R), c.403C>T (p.R135W), and c.512C>G (p.P171R).The mutant human rhodopsin is thus expressed under the control of the endogenous mouse promoter. (J:337142)

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
• Carrying any Rho Mutation: 53 strains or lines available

References

• Original: J:337142 Liu X, et al., Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter. Exp Eye Res. 2022 Feb;215:108893
• All: 1 reference(s)