Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 predicted to be associated to 1600029I14Rik by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Diethylstilbestrol Syndrome | Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... | ORPHA:1916 | |
Renal Cysts And Diabetes Syndrome | Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... | OMIM:137920 | |
Von Hippel-Lindau Syndrome | Papillary cystadenoma of the epididymis, Multiple renal cysts, Epididymal cyst | OMIM:193300 | |
Floating-Harbor Syndrome | Hypospadias, Precocious puberty, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Vari... | ORPHA:2044 | |
Von Hippel-Lindau Disease | Papillary cystadenoma of the epididymis, Epididymal cyst, Multiple renal cysts, Elevated urinary ... | ORPHA:892 | |
Floating-Harbor Syndrome | Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... | OMIM:136140 |
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MGI Allele | Allele Type | Produced |
---|---|---|
1600029I14Riktm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
1600029I14Riktm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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