Phenotypes associated with this allele

• Allele Symbol: Pax6^tm1Gfs
• Allele Name: targeted mutation 1, Grady F Saunders
• Allele ID: MGI:2674289
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^tm1Gfs/Pax6^tm1Gfs	involves: 129S7/SvEvBrd	MGI:2674290
hm2	Pax6^tm1Gfs/Pax6^tm1Gfs	involves: 129S7/SvEvBrd * C57BL/6	MGI:3524967
ht3	Pax6^tm1Gfs/Pax6^+	involves: 129S7/SvEvBrd	MGI:2674292

Genotype
MGI:2674290

hm1

• Allelic Composition: Pax6^tm1Gfs/Pax6^tm1Gfs
• Genetic Background: involves: 129S7/SvEvBrd

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

Aniridia in Pax6^tm1Gfs/Pax6⁺ and Pax6^tm1Gfs/Pax6^tm1Gfs mice

vision/eye

abnormal iris morphology ( J:76576 )

• iris cells are less compact than in wild-type

• iris exhibits a spongy structure with empty spaces where no tissue is detected

abnormal pupil morphology ( J:76576 )

• irregularities are observed in the pupil region

mydriasis ( J:76576 )

aniridia ( J:76576 )

iris hypoplasia ( J:76576 )

• in spite of the iris hypoplasia, mice respond to light

abnormal corneal stroma morphology ( J:76576 )

• corneal stroma has 30% fewer keratocytes

abnormal lens morphology ( J:76576 )

• cells in the epithelial to fiber transition zone are less elongated, wider and less compact than in wild-type

abnormal lens epithelium morphology ( J:76576 )

• lens shows reduced numbers of newly differentiated lens epithelium cells in the transition zone

abnormal retina morphology ( J:76576 )

• retinas show papillated structures and often, the outer nuclear layer aggregates within the papillated structure

Genotype
MGI:3524967

hm2

• Allelic Composition: Pax6^tm1Gfs/Pax6^tm1Gfs
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

nervous system phenotype ( J:94457 )

N • no decrease in the number of neurons in the cerebral cortex or increase in the subventricular zone precursors as seen in Pax6^Sey or Pax6^Aey18 homozygotes

Genotype
MGI:2674292

ht3

• Allelic Composition: Pax6^tm1Gfs/Pax6⁺
• Genetic Background: involves: 129S7/SvEvBrd

Aniridia in Pax6^tm1Gfs/Pax6⁺ and Pax6^tm1Gfs/Pax6^tm1Gfs mice

vision/eye

abnormal iris morphology ( J:76576 )

• iris cells are less compact than wild-type

mydriasis ( J:76576 )

iris hypoplasia ( J:76576 )

• mild iris hypoplasia