Rp1^tm1Jnz
Targeted Allele Detail

Summary

• Symbol: Rp1^tm1Jnz
• Name: retinitis pigmentosa 1 (human); targeted mutation 1, Jian Zuo
• MGI ID: MGI:2179129
• Synonyms: Rp1-
• Gene: Rp1 Location: Chr1:4185896-4479489 bp, - strand Genetic Position: Chr1, 1.65 cM
• Alliance: Rp1^tm1Jnz page

Progressive degeneration of photoreceptors of Rp1^tm1Jnz/Rp1^tm1Jnz mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76071
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt^b-m2

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 and 3 were replaced with a neomycin resistance gene via homologous recombination thus deleting the translation initiation codon and Dcx functional domain. Mutant transcript was detected in retina of homozygous mutant animals. Western blot analysis and immunofluorescent staining was negative for wild-type protein, but a faint signal from a truncated protein was detected. The truncated protein is thought to originate from alternative translation initiation sites in exon 4. (J:76071)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structures

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 Rp1 Mutation: 63 strains or lines available

References

• Original: J:76071 Gao J, et al., Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703
• All: 6 reference(s)