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 |
---|---|---|---|---|---|---|
embryonic lethality prior to organogenesis | Mrpl12em1(IMPC)Tcp | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Mrpl12em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
abnormal kidney morphology | Mrpl12em1(IMPC)Tcp | HET | Early adult | 0.00 | ||
enlarged lymph nodes | Mrpl12em1(IMPC)Tcp | HET | Early adult | 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 Mrpl12 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Combined Oxidative Phosphorylation Deficiency 45 | OMIM:618951 |
The table below shows human diseases predicted to be associated to Mrpl12 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency | Lymphadenopathy | ORPHA:319600 | |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) | Abnormal lymph node morphology | OMIM:136580 | |
Reticuloendotheliosis, X-Linked | Hepatosplenomegaly, Lymphadenopathy | OMIM:312500 | |
Kimura Disease | Lymphadenopathy, Follicular hyperplasia | ORPHA:482 | |
Granulomatous Slack Skin | Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology | ORPHA:33111 | |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation | Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... | OMIM:602450 | |
Meige Disease | Lymph node hypoplasia, Absence of lymph node germinal center | ORPHA:90186 | |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency | Lymph node hypoplasia, Absent tonsils | ORPHA:276 | |
Purine Nucleoside Phosphorylase Deficiency | Splenomegaly, Lymph node hypoplasia | OMIM:613179 | |
Agammaglobulinemia, X-Linked | Lymph node hypoplasia | OMIM:300755 | |
Combined Oxidative Phosphorylation Deficiency 45 | OMIM:618951 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Mrpl12tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Mrpl12tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Mrpl12em1(IMPC)Tcp | Exon Deletion | Mice |
Mrpl12tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
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