Prpf31^tm1Bha
Targeted Allele Detail

Summary

• Symbol: Prpf31^tm1Bha
• Name: pre-mRNA processing factor 31; targeted mutation 1, Shoumo Bhattacharya
• MGI ID: MGI:4438620
• Synonyms: Prpf31^A216P
• Gene: Prpf31 Location: Chr7:3632984-3645484 bp, + strand Genetic Position: Chr7, 2.09 cM
• Alliance: Prpf31^tm1Bha page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:158261
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitutions (GCA to CCT) in a floxed exon 7 resulted in the amino acid substitution of proline for alanine at position 216 (A216P). (J:158261)

Disease models

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 Prpf31 Mutation: 25 strains or lines available

References

• Original: J:158261 Bujakowska K, et al., Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33
• All: 3 reference(s)