Rho^tm2.1Kpal
Targeted Allele Detail

Summary

• Symbol: Rho^tm2.1Kpal
• Name: rhodopsin; targeted mutation 2.1, Krzysztof Palczewski
• MGI ID: MGI:5474849
• Synonyms: Rho^E150K
• Gene: Rho Location: Chr6:115908709-115916997 bp, + strand Genetic Position: Chr6, 53.72 cM
• Alliance: Rho^tm2.1Kpal page

Progressive retinal degeneration in heterozygous and homozygous Rho^tm2.1Kpal mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:194158
• Parent Cell Line: iTL BA1 (ES Cell)
• Strain of Origin: (C57BL/6NTac x 129S6/SvEvTac)F1

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: Exon 2 was replaced with a floxed neo cassette and a modified exon 2 in which a G to A transition results in the amino acid substitution of lysine for glutamic acid (E150K). Cre-mediated recombination removed the neo cassette. (J:194158)

Targeting strategy for the generation of Rho^tm2.1Kpal allele

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Rho Mutation: 51 strains or lines available

References

• Original: J:194158 Zhang N, et al., Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. J Clin Invest. 2013 Jan 2;123(1):121-37
• All: 2 reference(s)