Gabpa | GA repeat binding protein, alpha
Physiological systems
23 / 24 physiological systems tested
11 Significantly impacted by the knock-out
Homeostasis/metabolism Embryo Growth/size/body region Digestive/alimentary Hearing/vestibular/ear Vision/eye Nervous system Skeleton Cardiovascular system Craniofacial Mortality/aging
12 No significant impact
1 Not tested
Data collections
Gene metrics:12Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal craniofacial morphology | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| cleft palate | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal cranium morphology | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E12.5 | N/A * | ||
| preweaning lethality, complete penetrance | 3 supporting datasets | Gabpaem2(IMPC)Mbp | homozygote | Early adult | N/A * | ||
| increased circulating bilirubin level | 1 supporting dataset | Gabpaem2(IMPC)Mbp | heterozygote | Early adult | 1.24x10-7 | ||
| hemorrhage | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal ear morphology | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E12.5 | N/A * | ||
| spina bifida | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| anophthalmia | 1 supporting dataset | Gabpaem2(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| hemorrhage | 1 supporting dataset | Gabpaem2(IMPC)Mbp | heterozygote | E15.5 | N/A * |
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Human diseases caused by Gabpa 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 Gabpa.
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