Table 3

 Animal models with ocular coloboma

Locus or breedGenotypeType of colobomaSpeciesSyntenic human locusReference
For abbreviations see table 1.
Vax2 Vax2 −/− I, R, C, O Mouse 2p13.3 Barbieri et al61
Pax2 Pax2 1bp ins; Pax2Neo/+; KrdI, R, C, OMouse10q24.31Torres et al59, Favor et al177, Keller et al178
Vax1 Vax1 −/− I, R, C, OMouse10q22.3Hallonet et al60
Pitx2 Pitx2 −/− OMouse4q25Gage et al179
Bf-1(Foxg1b) Bf-1 −/− I, R, C, OMouse14q12Huh et al62
Jnk1/2 Jnk1−/−/Jnk2−/+ R, CMouse10q11.2/5q35.3Cekan et al50
Pax6 Pax6lacZ/+ I, CO Mouse 11p13 Stull and Wikler67, Singh et al180
Jag1 Cm+/−; Jag1+/− IMouse20p12.2Wilson181, Xue et al182
AP-2 Ap-2α−/− A, C, RMouse6p24.3West-Mays et al183
Onc1 Onc1 −/+ OMouseHawes et al184
CALB/RkMultigenicOMouseHawes et al184
CEA Recessive O, C Dog Barnett185
BW Bmn-wys O, C, M Rat Wyse and Hollenberg186
Charolais Dominant O, C, R Cow Falco and Barnett187
MOC Complex trait L, R, O Cat Barnett and Lewis188,Belhorn et al189
Co X-linkedWhole eyeChickenAbbott et al190