Phenotypes associated with this allele

• Allele Symbol: Pax6^Sey-Dey
• Allele Name: small eye, Dickie
• Allele ID: MGI:1856157
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^Sey-Dey/Pax6^Sey-Dey	C3H/HeJ-Pax6^Sey-Dey	MGI:2175203
ht2	Pax6^Sey-Dey/Pax6^+	B6EiC3Sn a/A-Pax6^Sey-Dey/J	MGI:3771031
ht3	Pax6^Sey-Dey/Pax6^+	C3H/HeJ-Pax6^Sey-Dey	MGI:2175204
ht4	Pax6^Sey-Dey/Pax6^+	involves: C3H/HeJ	MGI:4358887
ht5	Pax6^Sey-Dey/Pax6^Sey	involves: C3H/HeJ	MGI:4358875

Genotype
MGI:2175203

hm1

• Allelic Composition: Pax6^Sey-Dey/Pax6^Sey-Dey
• Genetic Background: C3H/HeJ-Pax6^Sey-Dey

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:6072 )

• embryos die between E6 and E7

Genotype
MGI:3771031

ht2

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: B6EiC3Sn a/A-Pax6^Sey-Dey/J

The Pax6^Sey-Dey/Pax6⁺ mouse

vision/eye

abnormal cornea epithelium morphology ( J:83791 )

• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly

• no goblet cells are observed

• at 6 weeks, cell proliferation rates are increased (45% proliferative index compared to 4% proliferative index in wild-type mice)

• however, apoptosis rates are normal

• adhesion between cells in the suprabasal middle and superficial layers is disrupted

decreased cornea epithelium thickness ( J:83791 )

• the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice

• reduction in cell layers is apparent at P14 and P21

abnormal cornea stroma morphology ( J:83791 )

• the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region

Genotype
MGI:2175204

ht3

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: C3H/HeJ-Pax6^Sey-Dey

mortality/aging

neonatal lethality, incomplete penetrance ( J:6072 )

• 5% of mice die 8 to 10 hours after birth

vision/eye

abnormal retina pigment epithelium morphology ( J:6072 )

• mice have a reduced retinal pigment layer

aniridia ( J:10820 )

iris hypoplasia ( J:6072 )

• mice exhibit a partial or complete lose of iris tissue

• mice have an eye phenotype similar to aniridia

abnormal lens development ( J:6072 )

• lens pit development is delayed by 1 to 2 days relative to in wild-type mice

fused cornea and lens ( J:6072 )

cataract ( J:6072 )

• lens have anterior cataracts

small lens ( J:6072 )

• lens are small or absent

coloboma ( J:6072 )

• coloboma is visible by 11 days of gestation

microphthalmia ( J:6072 )

• mice have small eyes that are half the size of normal eyes

• the anterior chamber of the eye is missing

retina fold ( J:6072 )

• the retina is abnormally folded

nervous system

exencephaly ( J:6072 )

• at day 7 to 8 of gestation 2 embryos were found with exencephaly

pigmentation

belly spot ( J:6072 )

• mice have a white spot on their sternum that extends into a belt in some mice

abnormal retina pigment epithelium morphology ( J:6072 )

• mice have a reduced retinal pigment layer

hypopigmentation ( J:6072 )

• mice have reduced pigmentation on their feet and tails

growth/size/body

decreased body size ( J:6072 )

• mice are 10 to 20% smaller in size than wild-type mice

decreased fetal size ( J:6072 )

• mice are smaller than wild-type mice before birth and remain so the rest of their lives

neoplasm

neoplasm ( J:10820 )

N • despite the loss of Wt1, no abnormal tumors are detected in mice

renal/urinary system

renal/urinary system phenotype ( J:10820 )

N • mice have normal urogenital organs

integument

belly spot ( J:6072 )

• mice have a white spot on their sternum that extends into a belt in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aniridia		DOID:12271	OMIM:PS106210	J:10820
NOT	WAGR syndrome	DOID:14515	OMIM:194072	J:10820

Genotype
MGI:4358887

ht4

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: involves: C3H/HeJ

mortality/aging

prenatal lethality, incomplete penetrance ( J:14117 )

• fewer than expected heterozygotes survive to birth

growth/size/body

decreased body length ( J:14117 )

• heterozygous embryos are on average 13% smaller than wild-type littermates in crown-rump length

vision/eye

coloboma ( J:14117 )

Genotype
MGI:4358875

ht5

• Allelic Composition: Pax6^Sey-Dey/Pax6^Sey
• Genetic Background: involves: C3H/HeJ

respiratory system

absent nasal placodes ( J:14117 )

• 23% of embryos from a heterozygous intercross show not development of nasal placodes

taste/olfaction

absent nasal placodes ( J:14117 )

• 23% of embryos from a heterozygous intercross show not development of nasal placodes

vision/eye

absent lens vesicle ( J:14117 )

• 23% of embryos from a heterozygous intercross show no development of the lens

coloboma ( J:14117 )

• approximately a third of the embryos 14.5 days or older from heterozygous intercrosses are colobomatous

craniofacial

absent nasal placodes ( J:14117 )

• 23% of embryos from a heterozygous intercross show not development of nasal placodes