Rpgrip1^nmf247
Chemically induced Allele Detail

Summary

• Symbol: Rpgrip1^nmf247
• Name: retinitis pigmentosa GTPase regulator interacting protein 1; neuroscience mutagenesis facility, 247
• MGI ID: MGI:3511348
• Gene: Rpgrip1 Location: Chr14:52348161-52401003 bp, + strand Genetic Position: Chr14, 26.81 cM
• Alliance: Rpgrip1^nmf247 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A to T transversion in the intron 6 splice acceptor. This mutation leads to a frame shift and an in-frame 32 amino acid insertion before generating a premature termination codon. The absence of protein expression was confirmed by western blot analysis on retinal extracts. (J:82238)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Rpgrip1 Mutation: 70 strains or lines available

References

• Original: J:82238 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2003
• All: 4 reference(s)