Gene Summary

Name:
CpG island 15344
Synonyms:
CGI15344

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Cpgi15344tm1.1(NCC)WCS HOM Early adult 7.16×10-05
decreased circulating free fatty acids level Cpgi15344tm1.1(NCC)WCS HOM   Early adult 1.41×10-06
decreased circulating cholesterol level Cpgi15344tm1.1(NCC)WCS HOM Early adult 7.41×10-07
decreased circulating triglyceride level Cpgi15344tm1.1(NCC)WCS HOM Early adult 4.70×10-05
decreased circulating glycerol level Cpgi15344tm1.1(NCC)WCS HOM   Early adult 3.71×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Cpgi15344 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 Cpgi15344 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400

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 Cpgi15344

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 Cpgi15344.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cpgi15344tm1.1(NCC)WCS PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cpgi15344tm1.1(NCC)WCS PMC6671969

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MGI Allele Allele Type Produced
Cpgi15344tm1000431(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi15344tm1000469(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi15344tm1.1(NCC)WCS Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Cpgi15344tm1000461(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi15344tm1(NCC)WCS Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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