Gene Summary

Name:
Ly6/Plaur domain containing 3
Synonyms:
2310061G07Rik,  C4.4A

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
increased circulating triglyceride level Lypd3tm1.1(KOMP)Vlcg HET Early adult 7.95×10-10
increased blood urea nitrogen level Lypd3tm1.1(KOMP)Vlcg HET Early adult 3.15×10-05
increased food intake Lypd3tm1.1(KOMP)Vlcg HET Early adult 1.49×10-07
preweaning lethality, incomplete penetrance Lypd3tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (1 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

Adult LacZ

LacZ Images Section

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

Gross Pathology and Tissue Collection

Images

17 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Histopathology

Images

1 Images

Human diseases caused by Lypd3 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 Lypd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Polyphagia OMIM:617885
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia OMIM:222100
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Huntington Disease
Agitation, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol concentration, Compulsive ... ORPHA:399
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Aggressive behavior OMIM:616521
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level ORPHA:276556
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Overfriendliness, Aggressive behavior OMIM:618010
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level ORPHA:276575
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Onychotilloman... OMIM:182290
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level ORPHA:324575
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Aggressive behavior ORPHA:261229
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia OMIM:609734
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Inappropriate laughter, Polyphagia ORPHA:411515
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Agitation, Polyphagia ORPHA:276580
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Overfriendliness OMIM:620439
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Graves Disease
Hyperactivity, Polyphagia OMIM:275000
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums OMIM:300804
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Smith-Magenis Syndrome
Hypertriglyceridemia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... ORPHA:819
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Temple Syndrome
Polyphagia ORPHA:254516
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Secondary Short Bowel Syndrome
Abnormal blood ion concentration, Low plasma citrulline, Steatorrhea, Polyphagia ORPHA:95427
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Cebalid Syndrome
Polyphagia OMIM:618774
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... OMIM:278000
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Man1B1-Cdg
Polyphagia ORPHA:397941
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:49041
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Angelman Syndrome
Tongue thrusting, Hyperactivity, Recurrent hand flapping, Polyphagia, Inappropriate laughter, Dys... ORPHA:72
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag... OMIM:156200
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Dysphagia, Elevated circulating creatine kinase concentration OMIM:613327
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Insulinoma
Polyphagia ORPHA:97279
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia, Hyperactivity ORPHA:525731
Microtriplication 11Q24.1
Bruxism, Hyperlipidemia ORPHA:289522
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit hype... OMIM:176270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior ORPHA:251028
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Methanol Poisoning
Addictive alcohol use, Hyperlipidemia ORPHA:31825
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... ORPHA:98793
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... ORPHA:177904
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... ORPHA:177901
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Compulsive behaviors, Impulsivity, Skin-picking ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious behavior, Bulimia ORPHA:98754
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:398079
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Gangliocytoma
Polyphagia ORPHA:251937
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decrea... ORPHA:447
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Collectionism, Motor stereotypy, Self-injurious behavior, Aggressive b... ORPHA:96121
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Compulsive behaviors, Attention ... ORPHA:404448
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Polyphagia, Compulsive behaviors, Hyponatremia, Self-injurious behavi... ORPHA:293987
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric... OMIM:203800
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
H Syndrome
Hypertriglyceridemia ORPHA:168569
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Weaver Syndrome
Polyphagia OMIM:277590
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Polyphagia OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:77293
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Polyphagia, Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit h... OMIM:615873
19P13.12 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Hyperlipidemia ORPHA:254346
Prader-Willi Syndrome
Attention deficit hyperactivity disorder, Polyphagia ORPHA:739
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... OMIM:620330
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia, Dysphagia OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Craniopharyngioma
Polyphagia ORPHA:54595
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
1P36 Deletion Syndrome
Self-injurious behavior, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... ORPHA:189427
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Dysphagia OMIM:264090
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Oppositional defiant disorder, Dysphagia, Self-mutilation, Aggressive behavior OMIM:607872
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Fabry Disease
Anorexia, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia, Polyphagia ORPHA:64
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Lypd3

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 Lypd3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes. Scientific reports (May 2016) Lypd3tm1(KOMP)Vlcg PMC4864438

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lypd3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Lypd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Lypd3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lypd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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