Gene: Gpaa1 MGI:1202392
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The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
embryonic lethality prior to tooth bud stage | Gpaa1em1(IMPC)Bay | HOM | E12.5 | 0.00 | ||
abnormal retina vasculature morphology | Gpaa1em1(IMPC)Bay | HET | Early adult | 3.47×10-05 | ||
preweaning lethality, complete penetrance | Gpaa1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
abnormal embryo size | Gpaa1em1(IMPC)Bay | HET | E9.5 | 0.00 | ||
embryonic growth retardation | Gpaa1em1(IMPC)Bay | HET | E9.5 | 0.00 |
Human diseases caused by Gpaa1 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.
The table below shows human diseases associated to Gpaa1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Glycosylphosphatidylinositol Biosynthesis Defect 15 | Optic atrophy | OMIM:617810 | |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome | Optic atrophy | ORPHA:529665 |
The table below shows human diseases predicted to be associated to Gpaa1 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Gpaa1tm219444(L1L2_Bact_P) | Deletion | Targeting vectors |
Gpaa1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Gpaa1tm2e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Gpaa1em1(IMPC)Bay | Exon Deletion | Mice |
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