Phenotypes associated with this allele

• Allele Symbol: Pax6^Mhdaaey18
• Allele Name: Martin Hrabe de Angelis abnormal eyes 18
• Allele ID: MGI:3521718
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^Mhdaaey18/Pax6^Mhdaaey18	involves: C3HeB/FeJ	MGI:3521824
ht2	Pax6^Mhdaaey18/Pax6^+	C3HeB/FeJ-Pax6^Mhdaaey18	MGI:3611342
ht3	Pax6^Mhdaaey18/Pax6^+	involves: C3HeB/FeJ	MGI:3526886

Genotype
MGI:3521824

hm1

• Allelic Composition: Pax6^Mhdaaey18/Pax6^Mhdaaey18
• Genetic Background: involves: C3HeB/FeJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:82809 )

• pups die shortly after birth

nervous system

abnormal neuron differentiation ( J:94457 )

• significant decrease in the number of neurons generated in the cerebral cortex

• 2.7 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cerebral cortex

abnormal forebrain development ( J:94457 )

• altered dorso-ventral patterning of the forebrain

abnormal telencephalon development ( J:94457 )

• altered dorso-ventral telencephalic boundary

thin cortical plate ( J:94457 )

• decreased thickness of the cortical plate

abnormal embryonic/fetal subventricular zone morphology ( J:94457 )

• 2.7 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cerebral cortex

cellular

abnormal neuron differentiation ( J:94457 )

• significant decrease in the number of neurons generated in the cerebral cortex

• 2.7 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cerebral cortex

Genotype
MGI:3611342

ht2

• Allelic Composition: Pax6^Mhdaaey18/Pax6⁺
• Genetic Background: C3HeB/FeJ-Pax6^Mhdaaey18

vision/eye

corneal opacity ( J:103785 )

• cornea is frequently opaque with a central dimple

corneal-lenticular stalk ( J:103785 )

• the lens stalk connecting lens and cornea persist

• the anterior chamber is very small

• appear as a central depression on cornea

cataract ( J:103785 )

microphthalmia ( J:103785 )

• small eyes with vacuolated lenses

Genotype
MGI:3526886

ht3

• Allelic Composition: Pax6^Mhdaaey18/Pax6⁺
• Genetic Background: involves: C3HeB/FeJ

vision/eye

cataract ( J:82809 )

• mice heterozygous for this mutation have cataracts

microphthalmia ( J:82809 )

• heterozygous mice have small eyes