Phenotypes associated with this allele

• Allele Symbol: Pax6^132-14Neu
• Allele Name: 132-14, Neuherberg
• Allele ID: MGI:1856585
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^132-14Neu/Pax6^132-14Neu	C3.Cg-Pax6^132-14Neu	MGI:3707321
hm2	Pax6^132-14Neu/Pax6^132-14Neu	involves: 101 * C3H	MGI:2175740
ht3	Pax6^132-14Neu/Pax6^+	C3.Cg-Pax6^132-14Neu	MGI:3707320
ht4	Pax6^132-14Neu/Pax6^+	involves: 101 * C3H	MGI:2175741

Genotype
MGI:3707321

hm1

• Allelic Composition: Pax6^132-14Neu/Pax6^132-14Neu
• Genetic Background: C3.Cg-Pax6^132-14Neu

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

Pax6^132-14Neu/Pax6⁺ and Pax6^132-14Neu/Pax6^132-14Neu histological adult eye sections.

vision/eye

abnormal cornea stroma morphology ( J:40665 )

• the corneal stroma is pierced centrally by a strand of epithelial cells continuous with the corneal epithelium

abnormal eye anterior chamber morphology ( J:40665 )

• the anterior chamber is absent and the small globe is filled with extensively folded but well differentiated retina

abnormal lens morphology ( J:40665 )

• the lens is severely malformed, consisting of small clusters of round fiber-like cells and irregular strands of lens epithelium and capsule

fused cornea and lens ( J:40665 )

• microphthalmic eyes show a persistent connection between the lens and the cornea

coloboma ( J:40665 )

• in some eyes, colobomata occurs at the posterior pole

microphthalmia ( J:40665 )

abnormal vitreous body morphology ( J:40665 )

• the vitreous body is absent

Genotype
MGI:2175740

hm2

• Allelic Composition: Pax6^132-14Neu/Pax6^132-14Neu
• Genetic Background: involves: 101 * C3H

vision/eye

anophthalmia ( J:6686 )

• complete penetrance

Genotype
MGI:3707320

ht3

• Allelic Composition: Pax6^132-14Neu/Pax6⁺
• Genetic Background: C3.Cg-Pax6^132-14Neu

Pax6^132-14Neu/Pax6⁺ and Pax6^132-14Neu/Pax6^132-14Neu histological adult eye sections.

vision/eye

abnormal cornea morphology ( J:40665 )

abnormal cornea endothelium morphology ( J:40665 )

• fusion of the lens to the cornea is associated with a defect in the corneal stroma and endothelium, which is filled with epithelial cells continuous with those covering the conically projecting anterior surface of the lens

abnormal cornea stroma morphology ( J:40665 )

• defect in the corneal stroma, which is filled with epithelial cells

abnormal lens morphology ( J:40665 )

• in the lens, a plaque of multilayered epithelial cells and degenerated cortical fibers underlay the fusion point

fused cornea and lens ( J:40665 )

• the anterior pole of the lens is fused to the cornea

abnormal lens vesicle development ( J:40665 )

• failure of lens vesicle to separate from ectoderm

anterior polar cataract ( J:40665 )

• eyes in which the lens and cornea are separated display an anterior polar cataract and central corneal defect involving the stroma, Descemet's membrane, and endothelium

Genotype
MGI:2175741

ht4

• Allelic Composition: Pax6^132-14Neu/Pax6⁺
• Genetic Background: involves: 101 * C3H

vision/eye

fused cornea and lens ( J:6686 )

• the remnants of the pupillary membrane connect the opacity with the cornea

abnormal lens vesicle development ( J:6686 )

• failure of lens vesicle to separate from ectoderm

cataract ( J:6686 )

• pyramidal opacity at anterior pole of lens; uni- or bilateral and incomplete penetrance

• the opacity frequently protrudes into the anterior chamber and attaches to the cornea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract		DOID:83	OMIM:601371 OMIM:PS116200	J:6686