Phenotype Image Detail

Image

Caption

The dominant negative Mitf^Mi allele restores retinal development in the Vsx2 mutants. (A-F) Merged images of cryosections showing DAPI staining (blue) and melanogenic pigmentation (white) in P0 Vsx2^or-J/Vsx2^or-J (orJ), Vsx2^tm1.1Itl/Vsx2^tm1.1Itl (R200Q), and Vsx2^tm1.1Eml/Vsx2^tm1.1Eml (R227W) mice that were Mitf wild-type (Mitf+/+; A-C) and mi heterozygous (Mitf^Mi/Mitf⁺; D-F). Insets show whole eyes. The retina in C was completely transformed into pigmented tissue (bounded by dashed line) and ectopic periocular mesenchyme (POM) was partially pigmented (asterisk). Eye size and retinal histology were restored to a comparable degree in all Vsx2, mi compound mutants (D-F). Also notable in the R227W, mi compound mutant (Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Mitf^Mi/Mitf⁺) was the lack of POM in the vitreal chamber (asterisk in F). (G-L) TUBB3 staining at P0. In all cases, lamination patterns were restored in the compound mutants, indicating robust neurogenesis. Retinal tissue in I is bounded by the dashed lines. (M) The reduced eye size in the Vsx2^tm1.1Eml/Vsx2^tm1.1Eml (R227W) mutant was partially rescued in the Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Mitf^Mi/Mitf⁺ (R227W; Mitf^mi/+) mutant at E12.5. (N) The expression of TUBB3 was detected in the R227W; Mitf^mi/+ retina at E13.5. (O) Mitf and Otx1 transcript levels were much lower in the R227W; Mitf^mi/+ retina (black bars) compared to the R227W mutant (white bars). (P) pan-Mitf transcript level in orJ; Mitf^mi/+ retina was not lower than that in orJ retina. *P<0.05; ***P<0.001 Scale bars: 100 um (A-F); 1 mm (insets); 50 um (G-L); 0.5 mm (M); 100 um (N).

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
Mitf^Mi	melanogenesis associated transcription factor; microphthalmia
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
Mitf^Mi/Mitf⁺ Vsx2^or-J/Vsx2^or-J	involves: 129S1/Sv * 129X1/SvJ
Mitf^Mi/Mitf⁺ Vsx2^tm1.1Itl/Vsx2^tm1.1Itl	involves: 129S1/Sv * 129S6/SvEvTac
Mitf^Mi/Mitf⁺ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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