Pah | phenylalanine hydroxylase
GeneMGI:97473
Physiological systems
18 / 24 physiological systems tested
9 Significantly impacted by the knock-out
Reproductive system Immune system Pigmentation Endocrine/exocrine gland Integument Vision/eye Hematopoietic system Behavior/neurological Skeleton
9 No significant impact
6 Not tested
Data collections
Gene metrics:11Significant phenotypes
6Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| small adrenal glands | 1 supporting dataset | Pahem1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal sternum morphology | 1 supporting dataset | Pahem1(IMPC)Tcp | heterozygote | Early adult | N/A * | ||
| microphthalmia | 1 supporting dataset | Pahem1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| small spleen | 1 supporting dataset | Pahem1(IMPC)Tcp | heterozygote | Early adult | N/A * | ||
| abnormal cornea morphology | 1 supporting dataset | Pahem1(IMPC)Tcp | homozygote | Early adult | 2.38x10-5 | ||
| abnormal coat/hair pigmentation | 3 supporting datasets | Pahem1(IMPC)Tcp | homozygote | Early adult | 3.33x10-6 | ||
| abnormal sternum morphology | 1 supporting dataset | Pahem1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| female infertility | 1 supporting dataset | Pahem1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| decreased exploration in new environment | 1 supporting dataset | Pahem1(IMPC)Tcp | heterozygote | Early adult | 6.07x10-6 |
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Human diseases caused by Pah 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Pah.
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| Pahem1(IMPC)Tcp | Exon Deletion | | mouse |
| Pahtm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Pahtm115813(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |
| Pahtm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |