Prph2^tm1Nmc
Targeted Allele Detail

Summary

• Symbol: Prph2^tm1Nmc
• Name: peripherin 2; targeted mutation 1, Niamh McNally
• MGI ID: MGI:2182621
• Synonyms: Prph2^delta307, rds-307
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^tm1Nmc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76490
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A 1 bp deletion found in an autosomal dominant form of human retinitis pigmentosa was introduced into codon 307 of the mouse gene in conjunction with a loxP-neo cassette situated in the 3' untranslated region (500 bp from the 307 mutation) via homologous recombination. Homozygous mutant animals were identified by PCR genotyping and Southern blot analysis and the presence of the codon 307 mutation was verified by RT-PCR of cDNA from retinas of homozygous mutant animals. (J:76490)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Prph2 Mutation: 28 strains or lines available

References

• Original: J:76490 McNally N, et al., Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. Hum Mol Genet. 2002 May 1;11(9):1005-16
• All: 5 reference(s)