Mouse Genome Informatics
hm1
    Pax6Sey-Dey/Pax6Sey-Dey
C3H/HeJ-Pax6Sey-Dey
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging


Mouse Genome Informatics
ht2
    Pax6Sey-Dey/Pax6+
B6EiC3Sn a/A-Pax6Sey-Dey/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

The Pax6Sey-Dey/Pax6+ mouse

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


Mouse Genome Informatics
ht3
    Pax6Sey-Dey/Pax6+
C3H/HeJ-Pax6Sey-Dey
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 5% of mice die 8 to 10 hours after birth

vision/eye
• mice exhibit a partial or complete lose of iris tissue
• mice have an eye phenotype similar to aniridia
• lens pit development is delayed by 1 to 2 days relative to in wild-type mice
• lens have anterior cataracts
• lens are small or absent
• coloboma is visible by 11 days of gestation
• mice have small eyes that are half the size of normal eyes
• the anterior chamber of the eye is missing
• the retina is abnormally folded
• mice have a reduced retinal pigment layer

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

pigmentation
• mice have a white spot on their sternum that extends into a belt in some mice
• mice have a reduced retinal pigment layer
• mice have reduced pigmentation on their feet and tails

growth/size/body
• mice are 10 to 20% smaller in size than wild-type mice
• mice are smaller than wild-type mice before birth and remain so the rest of their lives

tumorigenesis
N
• despite the loss of Wt1, no abnormal tumors are detected in mice (J:10820)

renal/urinary system
N
• mice have normal urogenital organs (J:10820)

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


Mouse Genome Informatics
ht4
    Pax6Sey-Dey/Pax6+
involves: C3H/HeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected heterozygotes survive to birth

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

vision/eye


Mouse Genome Informatics
ht5
    Pax6Sey-Dey/Pax6Sey
involves: C3H/HeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
respiratory system
• 23% of embryos from a heterozygous intercross show not development of nasal placodes

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

vision/eye
• 23% of embryos from a heterozygous intercross show no development of the lens
• approximately a third of the embryos 14.5 days or older from heterozygous intercrosses are colobomatous

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