Phenotypes Associated with This Genotype

Genotype
MGI:2175204

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

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

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