Pax2^M1Bpb
Chemically induced Allele Detail

Summary

• Symbol: Pax2^M1Bpb
• Name: paired box 2; mutation 1, Brian P Brooks
• MGI ID: MGI:4442602
• Synonyms: Pax2^A220G, Pax2 (p.T74A)
• Gene: Pax2 Location: Chr19:44744484-44826310 bp, + strand Genetic Position: Chr19, 38.09 cM
• Alliance: Pax2^M1Bpb page

Ocular abnormalities in Pax2^M1Bpb/Pax2⁺ mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A to G transition at position 220 (no source sequence accession number provided) resulting in the amino acid subsitution of alanine for threonine at position 74 (T74A). Reduced steady-state protein levels were confirmed by western blot analysis on embryo extracts. (J:159240)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	12 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 Pax2 Mutation: 44 strains or lines available

References

• Original: J:159240 Alur RP, et al., Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. PLoS Genet. 2010;6(3):e1000870
• All: 2 reference(s)