Pitx1 | paired-like homeodomain transcription factor 1
Physiological systems
18 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Integument Limbs/digits/tail Vision/eye Skeleton Mortality/aging
13 No significant impact
6 Not tested
Data collections
Gene metrics:11Significant phenotypes
5Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal joint morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 4.34x10-13 | ||
| abnormal femur morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 6.01x10-9 | ||
| vertebral transformation | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 7.17x10-5 | ||
| abnormal cornea morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 4.22x10-8 | ||
| abnormal digit morphology | 3 supporting datasets | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 4.39x10-8 | ||
| abnormal nail morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 8.67x10-6 | ||
| abnormal tibia morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 4.71x10-16 | ||
| abnormal autopod morphology | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 4.08x10-5 | ||
| polysyndactyly | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | heterozygote | Early adult | 5.63x10-8 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Pitx1em1(IMPC)Wtsi | homozygote | Early adult | N/A * |
| | | | | | | | | | |
Human diseases caused by Pitx1 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 Pitx1.
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
| Pitx1em1(IMPC)Wtsi | Deletion | | mouse |
| Pitx1tm1e(KOMP)Mbp | Targeted, non-conditional allele | | ES Cell |
| Pitx1tm208889(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |