Pax3^Sp-1Xzg
Chemically induced Allele Detail

Summary

• Symbol: Pax3^Sp-1Xzg
• Name: paired box 3; splotch 1 Xizhi Guo
• MGI ID: MGI:5490564
• Synonyms: Sp^xG
• Gene: Pax3 Location: Chr1:78077904-78173771 bp, - strand Genetic Position: Chr1, 39.79 cM
• Alliance: Pax3^Sp-1Xzg page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Nucleotide substitutions
• Mutation details: ENU mutagenesis induces an A to G substitution that results in the amino acid substitution of aspartic acid for asparagine at position 269 (N269D). A synonymous mutation in exon 7 (C1154T) does not alter protein sequence. Western blot analysis confirmed the absence of protein expression in E13.5 embryo extracts. (J:196566)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

6 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 Pax3 Mutation: 50 strains or lines available

References

• Original: J:196566 Xiao Y, et al., Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis. J Genet Genomics. 2011 Aug 20;38(8):333-9
• All: 1 reference(s)