Phenotypes Associated with This Genotype

Genotype
MGI:5613997

• Allelic Composition: Klf4^tm1Khk/Klf4^tm1Khk; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

vision/eye

blepharitis ( J:117671 )

• at 8 weeks of age, adult mutants display inflammation of the eyelids

abnormal eye morphology ( J:117671 )

• at 8 weeks of age, enucleated mutant eyeballs appear marginally smaller and show a rough and speckled surface, unlike controls

• however, no major difference in eyelid fusion or the structure of the developing eye are noted at P1

acoria ( J:117671 )

• in some cases pupils are absent

small pupil ( J:117671 )

• at 8 weeks of age, about 20% of mutant eyes exhibit a hyperplastic iris causing the pupil to be smaller or absent in some eyes

iris hyperplasia ( J:117671 )

• at 8 weeks of age, about 20% of mutant eyes exhibit a hyperplastic iris

absent conjunctiva goblet cells ( J:117671 )

• at 8 weeks of age, the conjunctiva lacks goblet cells, unlike in control mice

abnormal Bowman membrane morphology ( J:117671 )

• TEM shows that the basement layer beneath the epithelial cells is thinner in mutant corneas

• fewer and less-electron-dense hemidesmosomes connecting the basal epithelial cells to the basement membrane are observed in mutant corneas

abnormal cornea endothelium morphology ( J:117671 )

• at 8 weeks of age, the corneal endothelial cells are swollen and highly vacuolated

• however, the Descemet's membrane appears normal

abnormal cornea epithelium morphology ( J:117671 )

• epithelial bulli are occasionally observed in mutant corneas

• TEM indicates fewer corneal epithelium cell layers, fewer microvilli on the superficial cells, as well as swollen, spherical, and vacuolated basal cells, and a higher frequency of delamination than wild-type cells

• SEM of the corneal surface shows a mix of electron-dense and light cells, unlike the uniformly stained cells seen at the wild-type corneal surface

decreased cornea epithelium thickness ( J:117671 )

• at 8 weeks of age, the corneal epithelium has 3 to 4 instead of the normal 5 to 8 cell layers

abnormal cornea stroma morphology ( J:117671 )

• at 8 weeks of age, the corneal stroma is edematous, unlike in controls

• expression of the aquaporin-5 gene is downregulated, consistent with stromal edema

abnormal cornea anterior stroma morphology ( J:117671 )

• in the anterior stroma, the mean number of collagen fibrils per unit cross-sectional is reduced to ~70% of the wild-type number, resulting in higher interfibrillar space, consistent with stromal edema

increased cornea stroma thickness ( J:117671 )

• at 8 weeks of age, the mean corneal stroma thickness is increased by 45%

lens vacuoles ( J:117671 )

• at 8 weeks of age, the anterior cortical lens is vacuolated, unlike in control mice

abnormal lens fiber morphology ( J:117671 )

• at 8 weeks of age, the mutant lens shows vacuolated anterior cortical lens fiber cells beneath the epithelium, extending to the bow region, unlike the compactly packed fiber cells seen in the wild-type lens

small lens ( J:117671 )

• at 8 weeks of age, the mean size of the mutant lens is decreased by about 12%

microphthalmia ( J:117671 )

• at 8 weeks of age, the mean size of the mutant eye is decreased by about 12%

increased cornea fragility ( J:117671 )

• a 2-fold increase in the number of BrdU-incorporating cells is noted in the corneal epithelium, suggesting that the reduced number of corneal epithelial cell layers is due to excessive cell sloughing rather than a reduced rate of cell proliferation

• expression of the keratin-12 gene is downregulated, consistent with corneal epithelial fragility

immune system

blepharitis ( J:117671 )

• at 8 weeks of age, adult mutants display inflammation of the eyelids