Phenotype Image Detail

Image

Caption

The R200Q and R227W mutations cause non-syndromic congenital microphthalmia. (A-D) Mice homozygous for the orJ (Vsx2^or-J/Vsx2^or-J), R200Q (Vsx2^tm1.1Itl/Vsx2^tm1.1Itl), and R227W(Vsx2^tm1.1Eml/Vsx2^tm1.1Eml) alleles had smaller eyes than wild-type by E11.5. (E-H) At E14.5, overall embryonic development was unaffected in the mutants, but the failure of the mutant eyes to keep pace with the growth of the wild-type eye was evident. Eye growth in the R227W mutant also failed to keep pace with the orJ and R200Q mutants. (I-L) Dissected E17.5 eyes (right eyes rotated 90 degrees) show similar reductions in eye size in orJ and R200Q homozygotes whereas the reduction in eye size of R227W homozygotes was the most severe. (M-P) VSX2 immunohistochemistry in E12.5 retinas. VSX2 protein was not detected in the orJ retina, confirming it as an expression null. VSX2^[R200Q] and VSX2^[R227W] were expressed similarly to VSX2^[wt], although to a reduced extent in peripheral retina. Dashed lines bound retinas.

Copyright

This image is from Zou C, PLoS Genet 2012 Sep;8(9):e1002924, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:190452

Associated Alleles

Symbol	Name
Vsx2^or-J	visual system homeobox 2; ocular retardation Jackson
Vsx2^tm1.1Eml	visual system homeobox 2; targeted mutation 1.1, Edward M Levine
Vsx2^tm1.1Itl	visual system homeobox 2; targeted mutation 1.1, inGenious Targeting Laboratory

Associated Genotypes

Allelic Composition	Genetic Background
Vsx2^tm1.1Itl/Vsx2^tm1.1Itl	involves: 129S6/SvEvTac
Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ
Vsx2^or-J/Vsx2^or-J	involves: 129S1/Sv