Pitx2 | paired-like homeodomain transcription factor 2
Physiological systems
20 / 24 physiological systems tested
10 Significantly impacted by the knock-out
Reproductive system Endocrine/exocrine gland Growth/size/body region Nervous system Vision/eye Behavior/neurological Skeleton Mortality/aging Cardiovascular system Craniofacial
10 No significant impact
4 Not tested
Data collections
Gene metrics:9Significant phenotypes
9Associated diseases
Expression examined in:46Adult tissues
42Embryo tissues
| abnormal optic disk morphology | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 6.14x10-17 | ||
| enlarged heart | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | N/A * | ||
| prenatal lethality | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | homozygote | E18.5 | N/A * | ||
| increased grip strength | 2 supporting datasets | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 5.35x10-9 | ||
| abnormal tooth morphology | 2 supporting datasets | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 8.77x10-9 | ||
| cornea opacity | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 5.13x10-13 | ||
| small testis | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | N/A * | ||
| irregularly shaped pupil | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 3.06x10-6 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Pitx2tm1b(EUCOMM)Wtsi | homozygote | Early adult | N/A * |
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| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | n/a | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 0% (0/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 0% (0/2) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Pitx2 mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
External links
No external links available for Pitx2.
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| Pitx2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Pitx2tm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Pitx2tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |