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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal embryo turning | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal embryo size | Ift52em1(IMPC)Bay | HET | E9.5 | 0.00 | ||
abnormal midbrain development | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
hemorrhage | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal visceral yolk sac morphology | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
embryonic lethality prior to tooth bud stage | Ift52em1(IMPC)Bay | HOM | E12.5 | 0.00 | ||
embryonic growth retardation | Ift52em1(IMPC)Bay | HET | E9.5 | 0.00 | ||
pale yolk sac | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal forebrain development | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal embryo turning | Ift52em1(IMPC)Bay | HET | E9.5 | 0.00 | ||
edema | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal heart morphology | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Ift52em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
abnormal heart looping | Ift52em1(IMPC)Bay | HOM | E9.5 | 0.00 |
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 Ift52 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly | Short stature | OMIM:617102 | |
Cranioectodermal Dysplasia | Rhizomelia | ORPHA:1515 |
The table below shows human diseases predicted to be associated to Ift52 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Lymphatic Malformation 7 | Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... | OMIM:617300 | |
Cardiac Valvular Dysplasia 1 | Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... | OMIM:212093 | |
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly | Short stature | OMIM:617102 | |
Cranioectodermal Dysplasia | Rhizomelia | ORPHA:1515 |
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.
MGI Allele | Allele Type | Produced |
---|---|---|
Ift52tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ift52tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Ift52em1(IMPC)Bay | Exon Deletion | Mice |
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