Phenotypes associated with this allele

• Allele Symbol: Vsx2^tm1.1Eml
• Allele Name: targeted mutation 1.1, Edward M Levine
• Allele ID: MGI:5449356
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ	MGI:5449360
ht2	Vsx2^or-J/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ	MGI:5449362
cx3	Cdkn1b^tm1Mlf/Cdkn1b^+ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129 * C57BL/6	MGI:5449369
cx4	Mitf^Mi/Mitf^+ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ	MGI:5449367

Genotype
MGI:5449360

hm1

• Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Small eyes in various Vsx2 homozygous mutants

vision/eye

abnormal eye morphology ( J:190452 )

• eyes are more severely affected compared to mice homozygous for Vsx2^or-J or Vsx2^tm1.1Itl

abnormal retina pigment epithelium morphology ( J:190452 )

• thickened

abnormal retina pigmentation ( J:190452 )

• extensive pigmentation of the retina

small lens ( J:190452 )

abnormal retina development ( J:190452 )

• lack of detectable neurogenesis in the retina

microphthalmia ( J:190452 )

• by E11.5

• becomes progressively more severe with age

• from E14.5 on, eyes are smaller compared to mice homozygous for Vsx2^or-J or Vsx2^tm1.1Itl

decreased total retina thickness ( J:190452 )

abnormal vitreous body morphology ( J:190452 )

• infiltration of mesenchymal cells into the vitreal chamber

• at E17.5 the entire vitreal chamber is filled with mesenchymal cells

pigmentation

abnormal retina pigment epithelium morphology ( J:190452 )

• thickened

abnormal retina pigmentation ( J:190452 )

• extensive pigmentation of the retina

Genotype
MGI:5449362

ht2

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

Eye circumference of various Vsx2 mutants

vision/eye

microphthalmia ( J:190452 )

• phenotype is intermediate between mice homozygous for either allele

Genotype
MGI:5449369

cx3

• Allelic Composition: Cdkn1b^tm1Mlf/Cdkn1b⁺; Vsx2^tm1.1Eml/Vsx2^tm1.1Eml
• Genetic Background: involves: 129 * C57BL/6

vision/eye

abnormal eye morphology ( J:190452 )

• substantial improvements in tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2^tm1.1Eml alone

• rescue in the peripheral region is not as strong as in the central region

Genotype
MGI:5449367

cx4

• Allelic Composition: Mitf^Mi/Mitf⁺; Vsx2^tm1.1Eml/Vsx2^tm1.1Eml
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

The dominant negative Mitf^Mi allele restores retinal development in the Vsx2 mutants

vision/eye

abnormal eye morphology ( J:190452 )

• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2^tm2.1Eml alone

abnormal eye size ( J:190452 )

• substantial improvements in eye size compared to mice homozygous for Vsx2^tm1.1Eml alone