Mouse Genome Informatics
cn1
    Pitx2tm1.1Dmm/Pitx2tm1.1Sac
Tg(Nes-cre)1Kln/0

involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• mammillothalamic tract fibers are truncated or severely diminished compared to in control mice
• PAX6+ cells at the principal mammillary tract-mammillothalamic tract bifurcation are reduced compared to in control mice
• however, mice exhibit intact principal mammillary and mammillotegmental projections


Mouse Genome Informatics
cn2
    Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Wnt1-cre)11Rth/?
Gt(ROSA)26Sortm1Sor/?

involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• devoid of pigment except for a cone shaped region in the anterior segment
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
• corneal stroma and epithelium are absent
• hypomorphic hyaloid blood vessels
• muscle bundles present adjacent to the anterior segment
• eye stalk fails to extend at E12.5
• eyes directly attached to ventral diencephalon by E14.5
• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure
• eyes are not visible externally at E16.5
• eyes present but buried within the skull near the midline directly beneath the brain
• lens and retina present

pigmentation
• devoid of pigment except for a cone shaped region in the anterior segment
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

nervous system

muscle
• muscle bundles present adjacent to the anterior segment


Mouse Genome Informatics
cn3
    Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)1Sac/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size/body
• at 5 weeks, males and females have lower body weights than control littermates; female weight differences are greatest at 5 weeks, but are also lower at other post-weaning ages (weeks 4 through 8) while difference is smaller but still significant in males at 5 weeks

homeostasis/metabolism
N
• at 8 weeks, circulating thyroid-stimulating hormone (TSH) levels are not different in mutants and controls (J:197591)
• serum levels of total thyroxine (T4) are within normal ranges for male and female mutants (J:197591)
• following dietary-induced hypothyroidism for 4 weeks, mutants have a 48-fold increase in serum TSH levels, but this increase is inferior to the 80-fold increased serum TSH seen in controls fed the same low iodine diet for 4 weeks
• mutant thus show a blunted TSH response to hypothyroidism relative to controls

endocrine/exocrine glands
• thyroid gland volume is smaller in mutants than in controls; however, follicular size and height of follicular epithelia are indistinguishable from controls