Pax2^Opdc
Chemically induced Allele Detail

Summary

• Symbol: Pax2^Opdc
• Name: paired box 2; optic disc coloboma
• MGI ID: MGI:1934620
• Synonyms: Gena380, GENA 380
• Gene: Pax2 Location: Chr19:44744484-44826310 bp, + strand Genetic Position: Chr19, 38.09 cM
• Alliance: Pax2^Opdc page

Mutation origin

• Strain of Origin: (C3H/HeN x BALB/cAnN)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A single nucleotide change, a T-to-C transition in exon 2 at position 119 (numbering from RefSeq entry NM_011037.3), is present in the Opdc allele and is absent from the three background strains. This causes a non-conservative missense mutation, I40T, exchanging the hydrophobic amino acid isoleucine for the nucleophilic and hydrophilic amino acid threonine. The affected isoleucine is located in the first a-helix of the N-terminal subdomain of the DNA-binding paired domain and is conserved both among other members of the PAX family of transcription factors and across species. (J:166924)

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Pax2 Mutation: 44 strains or lines available

References

• Original: J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
• All: 2 reference(s)