Rpgrip1^tm1Tili
Targeted Allele Detail

Summary

• Symbol: Rpgrip1^tm1Tili
• Name: retinitis pigmentosa GTPase regulator interacting protein 1; targeted mutation 1, Tiansen Li
• MGI ID: MGI:2655714
• Synonyms: RPGRIP^-
• Gene: Rpgrip1 Location: Chr14:52348161-52401003 bp, + strand Genetic Position: Chr14, 26.81 cM
• Alliance: Rpgrip1^tm1Tili page

Ultrastructural examination of Rpgrip1^tm1Tili/Rpgrip1^tm1Tili mouse photoreceptors

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:82755
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Modified isoform(s), Null/knockout)
• Mutation: Insertion
• Mutation details: The gene was disrupted by insertion of a large cassette containing 3 duplicated exons and a neomycin resistance gene. RT-PCR and sequence analysis of mRNA from homozygous mutant animals detected a premature stop codon. Absence of gene expression in homozygous animals was confirmed by Western blot analysis. (J:82755, J:243745)

Disease models

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 Rpgrip1 Mutation: 70 strains or lines available

References

• Original: J:82755 Zhao Y, et al., The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):3965-70
• All: 9 reference(s)