Gene Summary

Name:
angiopoietin-like 8
Synonyms:
Rifl,  Lipasin,  Gm6484

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Angptl8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Angptl8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Failure to thrive in infancy, Postnatal grow... OMIM:232700
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Abnormal circulating lipid concentration OMIM:615238
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia, Growth de... OMIM:605814
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Lipodystrophy, Abnormal circulating lipid con... OMIM:615980
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy OMIM:246650
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Loss of subcutaneous adipose tissue from upper limbs, ... OMIM:608709
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Abnormal circulating lipid concentration, Weight loss, Lipodyst... ORPHA:1979
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea OMIM:614338
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Elevated circulating alka... ORPHA:567983
Stiff Skin Syndrome
Lipoatrophy, Abnormal circulating lipid concentration, Short stature ORPHA:2833
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Abnormal circulating lipid concentration, Short stature, Obesity ORPHA:3191
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Growth delay, Abnormal circulating lipid concentration, Hypertriglyceridemi... ORPHA:567548
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration ORPHA:225
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Panniculitis, Generalized lipodystrophy, Abnormal circulating lipid concent... ORPHA:79086
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Griscelli Syndrome
Jaundice, Hepatitis, Abnormal circulating lipid concentration, Short stature ORPHA:381
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatitis, Abnormal circulating lipid concentration, Elevated circ... ORPHA:829
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Truncal obesity, Inguinal hernia, Short stature, Intrau... OMIM:616541
Niemann-Pick Disease Type B
Abnormal circulating lipid concentration, Hypertriglyceridemia, Delayed puberty, Decreased liver ... ORPHA:77293
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Jaundice, Elevated circu... ORPHA:186
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormality of body weight, Abnormal circulating lipid concentration, Weight... ORPHA:2298
Livedoid Vasculopathy
Atrophic scars, Abnormal circulating lipid concentration, Hyperhomocystinemia ORPHA:542643
Fabry Disease
Short stature, Delayed puberty, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration ORPHA:488632
Williams Syndrome
Abnormal dental enamel morphology, Abnormal circulating lipid concentration, Failure to thrive in... ORPHA:904

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 Angptl8

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 Angptl8.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ANGPTL8 requires ANGPTL3 to inhibit lipoprotein lipase and plasma triglyceride clearance. Journal of lipid research (April 2017) Angptl8tm1(KOMP)Vlcg PMC5454515
Inactivation of ANGPTL3 reduces hepatic VLDL-triglyceride secretion. Journal of lipid research (May 2015) Angptl8tm1(KOMP)Vlcg PMC4479334
ANGPTL8/betatrophin does not control pancreatic beta cell expansion. Cell (October 2014) Angptl8tm1(KOMP)Vlcg PMC4243040
Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis. Proceedings of the National Academy of Sciences of the United States of America (September 2013) Angptl8tm1(KOMP)Vlcg PMC3791734

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MGI Allele Allele Type Produced
Angptl8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Angptl8em1(IMPC)Bay Intra-exon deletion Mice
Angptl8tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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