Gene Summary

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

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
preweaning lethality, incomplete penetrance Lypd3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased food intake Lypd3tm1.1(KOMP)Vlcg HET   Early adult 1.49×10-07
increased blood urea nitrogen level Lypd3tm1.1(KOMP)Vlcg HET Early adult 2.72×10-05
increased circulating triglyceride level Lypd3tm1.1(KOMP)Vlcg HET Early adult 8.13×10-10

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
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 Skull Lateral Orientation

19 Images

Gross Pathology and Tissue Collection

Images

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

Adult LacZ

LacZ Images Section

16 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
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia OMIM:609734
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia OMIM:614962
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276556
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased... OMIM:618620
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Pick Disease Of Brain
Polyphagia OMIM:172700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276575
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Frontotemporal Dementia
Polyphagia OMIM:600274
Lcat Deficiency
Hypertriglyceridemia ORPHA:650
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:324575
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Abnormal eatin... ORPHA:247585
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Polyphagia ORPHA:251004
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia OMIM:614963
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Polyphagia ORPHA:276580
Huntington Disease
Choking episodes, Polyphagia, Abnormal circulating cholesterol concentration, Oral-pharyngeal dys... ORPHA:399
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
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
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
Graves Disease, Susceptibility To, 1
Polyphagia OMIM:275000
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Temple Syndrome
Polyphagia ORPHA:254516
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Cebalid Syndrome
Polyphagia OMIM:618774
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Steatorrhea, Abnormal blood ion concentration ORPHA:95427
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Man1B1-Cdg
Polyphagia ORPHA:397941
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Dysphagia OMIM:613327
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Trisomy 18P
Polyphagia ORPHA:1715
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Insulinoma
Polyphagia ORPHA:97279
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:444490
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Mental Retardation, Autosomal Dominant 1
Polyphagia OMIM:156200
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Polyphagia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Gangliocytoma
Polyphagia ORPHA:251937
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Angelman Syndrome
Dysphagia, Polyphagia ORPHA:72
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
H Syndrome
Hypertriglyceridemia ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Polyphagia OMIM:269700
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398079
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Polyphagia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Bulimia ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Bulimia ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Bulimia ORPHA:177904
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Bulimia ORPHA:177901
7Q11.23 Microduplication Syndrome
Polyphagia ORPHA:96121
Prader-Willi Syndrome
Polyphagia OMIM:176270
Prader-Willi-Like Syndrome
Polyphagia, Bulimia ORPHA:398073
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyponatremia, Hyperlipidemia, Polyphagia ORPHA:293987
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Niemann-Pick Disease Type B
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:77293
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Prader-Willi Syndrome
Polyphagia ORPHA:739
Adnp Syndrome
Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Craniopharyngioma
Polyphagia ORPHA:54595
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Hypertriglyceridemia OMIM:264090
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni... ORPHA:157
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Decreased HDL choles... OMIM:256040
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
19P13.12 Microdeletion Syndrome
Hyperlipidemia ORPHA:254346
Glycogen Storage Disease Ia
Xanthelasma, Hyperuricemia, Hyperlipidemia OMIM:232200
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Glycogen Storage Disease Ib
Xanthelasma, Hyperuricemia, Hyperlipidemia OMIM:232220
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
1P36 Deletion Syndrome
Dysphagia, Polyphagia ORPHA:1606
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Glycogen Storage Disease Ic
Xanthelasma, Hyperuricemia, Hyperlipidemia OMIM:232240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia OMIM:248370
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Chromosome 1P36 Deletion Syndrome
Dysphagia, Polyphagia OMIM:607872
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia ORPHA:324
Alström Syndrome
Hypertriglyceridemia, Polyphagia, Hyperlipidemia ORPHA:64
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Turner Syndrome
Hyperlipidemia ORPHA:881
Mosaic Monosomy X
Hyperlipidemia ORPHA:99228
Monosomy X
Hyperlipidemia ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperlipidemia ORPHA:99413

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

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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
Lypd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lypd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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