Phenotypes associated with this allele

• Allele Symbol: Pax6^tm1.1Zkoz
• Allele Name: targeted mutation 1.1, Zbynek Kozmik
• Allele ID: MGI:5567084
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pax6^Sey-Neu/Pax6^tm1.1Zkoz	involves: 102/El * C3H/Rl	MGI:5567091
cn2	Pax6^tm1.1Zkoz/Pax6^Sey-Neu Tg(Rax-cre)1Zkoz/0	involves: 102/El * C3H/Rl	MGI:5567090
cn3	Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz Tg(Rax-cre)1Zkoz/0	Not Specified	MGI:5567085
cn4	Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz Tg(Pax6-cre,GFP)2Pgr/0	Not Specified	MGI:5567086

Genotype
MGI:5567091

ht1

• Allelic Composition: Pax6^Sey-Neu/Pax6^tm1.1Zkoz
• Genetic Background: involves: 102/El * C3H/Rl

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

vision/eye

abnormal optic cup morphology ( J:208421 )

• slight delay in optic cup morphogenesis at E10.5

Genotype
MGI:5567090

cn2

• Allelic Composition: Pax6^tm1.1Zkoz/Pax6^Sey-Neu; Tg(Rax-cre)1Zkoz/0
• Genetic Background: involves: 102/El * C3H/Rl

vision/eye

absent lens vesicle ( J:208421 )

• at E11

abnormal optic placode morphology ( J:208421 )

• does not form lens vesicle at E11

• optic vesicle arrests at E11 or shows only a small invagination into an optic cup like structure

aphakia ( J:208421 )

• at E11

abnormal optic cup morphology ( J:208421 )

• defective lens/optic cup formation at E11

Genotype
MGI:5567085

cn3

• Allelic Composition: Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz; Tg(Rax-cre)1Zkoz/0
• Genetic Background: Not Specified

vision/eye

vision/eye phenotype ( J:208421 )

N • retinal progenitor cell characteristics are maintained at E10.5

absent amacrine cells ( J:208421 )

• at E15.5

abnormal lens morphology ( J:208421 )

• occasionally observe morphological abnormalities that interfere with lens pit/optic cup formation

abnormal optic cup morphology ( J:208421 )

• at E10.5

abnormal retina development ( J:208421 )

• expression analysis indicates a defect in the retina-specific differentiation program

abnormal retina progenitor cell morphology ( J:208421 )

• significant reduction of retinal progenitor cell from E10.5 to E14.5

microphthalmia ( J:208421 )

• at postnatal stages

abnormal retina layer morphology ( J:208421 )

• absent of lamination at P0 and hardly distinguishable retinal cells at postnatal stages

• the differentiated cell layer is not established at E14.5-E16.5

decreased total retina thickness ( J:208421 )

• from E10.5 to P0

retina hypoplasia ( J:208421 )

• at E14.5 and E16.5

abnormal eye physiology ( J:208421 )

• rapid decrease of proliferating BrdU+ retinal progenitor cells at E14.5 to E16.5 onwards, where almost no BrdU+ cells are present in the retina

• lower overall progenitor proliferation at E11.5 and E13

increased retina apoptosis ( J:208421 )

• increase in apoptosis at E13.5 and E14.5, although no significant difference at younger ages (E10.5-E15.5)

cellular

abnormal cell cycle ( J:208421 )

• premature cell cycle exit in retinal progenitor cells

abnormal cell cycle checkpoint function ( J:208421 )

• G1+G2+M phase is increased in retinal progenitor cells at E11.5 and E13

abnormal mitosis ( J:208421 )

• decreased proportion of retinal progenitor cells stained for M-phase marker at E14.5, while no difference is detected in E10.5, E11.5, and E14.5 embryos.

increased retina apoptosis ( J:208421 )

• increase in apoptosis at E13.5 and E14.5, although no significant difference at younger ages (E10.5-E15.5)

decreased cell proliferation ( J:208421 )

• rapid decrease of proliferating BrdU+ retinal progenitor cells at E14.5 to E16.5 onwards, where almost no BrdU+ cells are present in the retina

• lower overall progenitor proliferation at E11.5 and E13

nervous system

absent amacrine cells ( J:208421 )

• at E15.5

Genotype
MGI:5567086

cn4

• Allelic Composition: Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: Not Specified

vision/eye

abnormal retina development ( J:208421 )

• expanded amacrine cell population in distal retinal layers in adult retinal sections