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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
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Gt(ROSA)26Sortm1Sor/? 		involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA MGI:5298219
cn3
 		Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)4Sac/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 (38 available)
Pitx2tm1.1Sac mutation (1 available); any Pitx2 mutation (38 available)
Tg(Nes-cre)1Kln mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal nervous system tract morphology ( J:181058 )
• 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




Genotype
MGI:5298219
cn2
Allelic
Composition		 Pitx2tm1.1Sac/Pitx2tm2Sac
H2az2Tg(Wnt1-cre)11Rth/H2az2+
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 (8 available); any Gt(ROSA)26Sor mutation (942 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Pitx2tm1.1Sac mutation (1 available); any Pitx2 mutation (38 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal eye pigmentation ( J:104125 )
• devoid of pigment except for a cone shaped region in the anterior segment
abnormal retina pigmentation ( J:104125 )
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
decreased corneal stroma thickness ( J:104125 )
• corneal stroma and epithelium are absent
abnormal eye development ( J:104125 )
• hypomorphic hyaloid blood vessels
abnormal eye muscle development ( J:104125 )
• muscle bundles present adjacent to the anterior segment
abnormal optic stalk morphology ( J:104125 )
• 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
anophthalmia ( J:104125 )
• 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
abnormal eye pigmentation ( J:104125 )
• devoid of pigment except for a cone shaped region in the anterior segment
abnormal retina pigmentation ( J:104125 )
• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

nervous system

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




Genotype
MGI:5495790
cn3
Allelic
Composition		 Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)4Sac/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 (38 available)
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (38 available)
Tg(Tshb-cre)4Sac mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body weight ( 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

homeostasis/metabolism
homeostasis/metabolism phenotype ( J:197591 )
N
• at 8 weeks, circulating thyroid-stimulating hormone (TSH) levels are not different in mutants and controls
• serum levels of total thyroxine (T4) are within normal ranges for male and female mutants
increased circulating thyroid-stimulating hormone level ( 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
small thyroid gland ( J:197591 )
• thyroid gland volume is smaller in mutants than in controls; however, follicular size and height of follicular epithelia are indistinguishable from controls




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory