Analysis Tools|
Allele Symbol Allele Name Allele ID |
Pitx2tm1.1Sac targeted mutation 1.1, Sally A Camper MGI:5298075 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• devoid of pigment except for a cone shaped region in the anterior segment
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• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
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• corneal stroma and epithelium are absent
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• hypomorphic hyaloid blood vessels
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• muscle bundles present adjacent to the anterior segment
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• 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
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• 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
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• devoid of pigment except for a cone shaped region in the anterior segment
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• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5
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• muscle bundles present adjacent to the anterior segment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| 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
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• 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
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• 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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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