PAX3 - Paired Box 3
This gene is a member of the paired box (PAX) family of transcription factors. PAX3 may regulate cell proliferation, migration and apoptosis, and it's involved in neural development and myogenesis. It's a transcriptional activator of MITF, acting synergistically with SOX10.
Mouse
splotch (six mutations, including delayed splotch)
Riken white A
Inheritence: splotch is lethal in homozygotes, white A is unclear.
splotch (Sp/sp)
Domestic cat
dominant blue eyes (four mutations: CEL, RE, ALT, AGO)
Inheritence: codominant or additive, i guess? Heterozygotes (DBE/wild type) usually have a small amount of white spotting and blue or odd eyes, viable homozygotes are white or mostly white. DBEre is likely lethal in homozygotes.
DBE (DBEcel/N), DBE (DBEre/N), DBE (DBEalt/N), DBE (DBEago/N), black eyed suspected compund heterozygote (DBEcel/DBEalt), near-white (DBEalt/DBEalt), white (DBEcel/DBEcel)
Horse
splashed white (three mutations: SW2, SW4, SW10)
Inheritence: codominant/additive. Heterozygotes are splashed, homozygotes (all known is SW2/SW2) are full whites.
white (SW2/SW2) with splashed (SW2/N) parents, splashed (SW4/N) - note that the SW allele only causes the white blaze, not the spotted blacket!, splashed (SW10/N)











