Rpgr^tm1Tili
Targeted Allele Detail

Summary

• Symbol: Rpgr^tm1Tili
• Name: retinitis pigmentosa GTPase regulator; targeted mutation 1, Tiansen Li
• MGI ID: MGI:2386674
• Synonyms: RPGR-
• Gene: Rpgr Location: ChrX:10024455-10083034 bp, - strand Genetic Position: ChrX, 4.62 cM
• Alliance: Rpgr^tm1Tili page

Light micrographs of retinal sections of wild-type and Rpgr^tm1Tili/Rpgr^tm1Tili mice.

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:61371
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Part of exon 4 through part of exon 6 was replaced with a promoter-less lacZ-neo cassette via homologous recombination. Northern blot analysis using a full length cDNA probe did not detect gene expression in brains from homozygous mutant animals. RT-PCR analysis also did not detect gene transcripts. Western blot analysis of protein from brain, retina, and testis confirmed the null allele. (J:61371)

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	4 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 Rpgr Mutation: 10 strains or lines available

References

• Original: J:61371 Hong DH, et al., A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54
• All: 17 reference(s)