Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
3-hydroxy-3-methylglutaryl-Coenzyme A lyase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hmgcl 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 Hmgcl by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Jaundice, Dilated cardiomyopathy... ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly OMIM:246450

The table below shows human diseases predicted to be associated to Hmgcl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation OMIM:608022
Sarcoidosis
Hepatomegaly, Decreased liver function, Abnormal liver parenchyma morphology, Hepatic failure, Po... ORPHA:797
Pmm2-Cdg
Pericarditis, Elevated hepatic transaminase, Pericardial effusion, Hepatic fibrosis, Abnormal liv... ORPHA:79318
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Jaundice, Dilated cardiomyopathy... ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly OMIM:246450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hmgcl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hmgcl.

No publications found that use IMPC mice or data for Hmgcl.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hmgcltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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