Rho^{tm1.1(RHO*)Akgr}
Targeted Allele Detail

Summary

• Symbol: Rho^{tm1.1(RHO*)Akgr}
• Name: rhodopsin; targeted mutation 1.1, Alecia K Gross
• MGI ID: MGI:5550062
• Synonyms: Ter349Glu
• Gene: Rho Location: Chr6:115908709-115916997 bp, + strand Genetic Position: Chr6, 53.72 cM
• Alliance: Rho^{tm1.1(RHO*)Akgr} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203860
• Parent Cell Line: AB2.1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: Using the human sequence, a knock-in was constructed that modifies the wild-type sequence to replace the stop codon with glutamic acid at position 349 (X349E) thereby adding a 51 amino acids to the protein. Cre-mediated recombination removed the Hprt selection cassette. (J:203860)

Expression

In Structures Affected by this Mutation:

1 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
• Carrying any Rho Mutation: 48 strains or lines available

References

• Original: J:203860 Hollingsworth TJ, et al., The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death. J Biol Chem. 2013 Oct 4;288(40):29047-55
• All: 2 reference(s)