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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitx2tm1.1Sac
targeted mutation 1.1, Sally A Camper
MGI:5298075
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pitx2tm1.1Dmm/Pitx2tm1.1Sac
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5308810
cn2
Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Wnt1-cre)11Rth/?
Gt(ROSA)26Sortm1Sor/?
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA MGI:5298219
cn3
Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)1Sac/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5495790


Genotype
MGI:5308810
cn1
Allelic
Composition
Pitx2tm1.1Dmm/Pitx2tm1.1Sac
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1.1Dmm mutation (1 available); any Pitx2 mutation (9 available)
Pitx2tm1.1Sac mutation (1 available); any Pitx2 mutation (9 available)
Tg(Nes-cre)1Kln mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mammillothalamic tract fibers are truncated or severely diminished compared to in control mice (J:181058)
• PAX6+ cells at the principal mammillary tract-mammillothalamic tract bifurcation are reduced compared to in control mice (J:181058)
• however, mice exhibit intact principal mammillary and mammillotegmental projections (J:181058)
• mammillothalamic tract fibers are truncated or severely diminished compared to in control mice (J:181058)
• PAX6+ cells at the principal mammillary tract-mammillothalamic tract bifurcation are reduced compared to in control mice (J:181058)
• however, mice exhibit intact principal mammillary and mammillotegmental projections (J:181058)




Genotype
MGI:5298219
cn2
Allelic
Composition
Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Wnt1-cre)11Rth/?
Gt(ROSA)26Sortm1Sor/?
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (305 available)
Pitx2tm1.1Sac mutation (1 available); any Pitx2 mutation (9 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (9 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• devoid of pigment except for a cone shaped region in the anterior segment (J:104125)
• devoid of pigment except for a cone shaped region in the anterior segment (J:104125)
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5 (J:104125)
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5 (J:104125)
• corneal stroma and epithelium are absent (J:104125)
• corneal stroma and epithelium are absent (J:104125)
• hypomorphic hyaloid blood vessels (J:104125)
• hypomorphic hyaloid blood vessels (J:104125)
• muscle bundles present adjacent to the anterior segment (J:104125)
• muscle bundles present adjacent to the anterior segment (J:104125)
• eye stalk fails to extend at E12.5 (J:104125)
• eyes directly attached to ventral diencephalon by E14.5 (J:104125)
• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure (J:104125)
• eye stalk fails to extend at E12.5 (J:104125)
• eyes directly attached to ventral diencephalon by E14.5 (J:104125)
• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure (J:104125)
• eyes are not visible externally at E16.5 (J:104125)
• eyes present but buried within the skull near the midline directly beneath the brain (J:104125)
• lens and retina present (J:104125)
• eyes are not visible externally at E16.5 (J:104125)
• eyes present but buried within the skull near the midline directly beneath the brain (J:104125)
• lens and retina present (J:104125)

pigmentation
• devoid of pigment except for a cone shaped region in the anterior segment (J:104125)
• devoid of pigment except for a cone shaped region in the anterior segment (J:104125)
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5 (J:104125)
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5 (J:104125)

nervous system

muscle
• muscle bundles present adjacent to the anterior segment (J:104125)
• muscle bundles present adjacent to the anterior segment (J:104125)




Genotype
MGI:5495790
cn3
Allelic
Composition
Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)1Sac/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1.1Sac mutation (1 available); any Pitx2 mutation (9 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (9 available)
Tg(Tshb-cre)1Sac mutation (0 available)
phenotype observed in females
phenotype observed in males
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 (J:197591)
• 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 (J:197591)

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)
• 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 (J:197591)
• mutant thus show a blunted TSH response to hypothyroidism relative to controls (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 (J:197591)
• mutant thus show a blunted TSH response to hypothyroidism relative to controls (J:197591)

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 (J:197591)
• thyroid gland volume is smaller in mutants than in controls; however, follicular size and height of follicular epithelia are indistinguishable from controls (J:197591)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory