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Gene: Ecscr MGI:1915795

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Gene Summary

Name:
endothelial cell surface expressed chemotaxis and apoptosis regulator
Synonyms:
ARIA,  1110006O17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
small thymus Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal thymus morphology Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal spinal cord morphology Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
small seminal vesicle Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal seminal vesicle morphology Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged kidney Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged epididymis Ecscrtm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (1 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 50% (1 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 pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Forepaw

11 Images

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Adult LacZ

LacZ Images Section

27 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Hind Leg and Hip

11 Images

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Human diseases caused by Ecscr 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 Ecscr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia OMIM:246650
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Lipodystrophy, Hype... OMIM:612526
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... ORPHA:280356
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Incre... ORPHA:2457
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcuta... OMIM:604367
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... ORPHA:983
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Renal hypoplasia/aplasia, Spinal cor... ORPHA:1756
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Lipodystrophy, Hypertriglyceridemia ORPHA:79085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Increased intraabdominal fat, Elevated circulating crea... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue i... ORPHA:435651
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ti... ORPHA:363400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Lymp... ORPHA:168569
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating cre... OMIM:615980
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leukopenia, Splenomeg... OMIM:617303
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Spinal hemangioblasto... OMIM:193300
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma ORPHA:276280
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia OMIM:615381
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Stage 5 chronic k... OMIM:137920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... OMIM:151660
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal ce... ORPHA:319487
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Prostatitis, Abnormality of the ant... ORPHA:449395
Congenital Generalized Lipodystrophy
Adipose tissue loss, Lipodystrophy, Hypercholesterolemia, Hypertriglyceridemia, Increased C-pepti... ORPHA:528
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... ORPHA:464329
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia ORPHA:2348
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Hyper... ORPHA:79083
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... OMIM:608978
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Lipodystrophy, Elevated circulating creatine kinase conc... ORPHA:98855
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Acrocephalopolydactylous Dysplasia
Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Lipodystrophy, Elevated circulating creatine kinase conc... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Lipodystrophy, Elevated circulating creatine kinase conc... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Lipodystrophy, Elevated circulating creatine kinase conc... ORPHA:261
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Panniculitis, Abnormal circulating lipid concentration, Hypertriglycer... ORPHA:79086
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, ... OMIM:618280
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... ORPHA:280365
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... ORPHA:79259
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Lipodystrophy, Hypertriglyceridemia OMIM:617591
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glyc... ORPHA:505248
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ... ORPHA:86816
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Vesicoureteral reflux, Cr... ORPHA:116
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Hepa... OMIM:276700
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology ORPHA:494
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hypoplastic nipples,... ORPHA:79328
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hype... ORPHA:508
Familial Chylomicronemia Syndrome
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia ORPHA:444490
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia ORPHA:1414
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Mucolipidosis Ii Alpha/Beta
Myelopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Lipodystrophy, Hypertriglyceridemia OMIM:613327
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Spina bifida o... ORPHA:500095
Ogden Syndrome
Polycythemia, Decreased testicular size, Cryptorchidism, Cardiomegaly, Global glomerulosclerosis,... OMIM:300855
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Abnormality of the kidney, Ur... ORPHA:53721
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia ORPHA:156
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney OMIM:306955
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Von Hippel-Lindau Disease
Polycythemia, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Multiple renal... ORPHA:892
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Proteus Syndrome
Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Testicular... ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Nep... OMIM:312870
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Hypertriglyceridemia, Reduced intraabdominal ... OMIM:608594
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Hypert... OMIM:269700
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Decreased adipose tissue around neck, Hyperlipidemia, Loss of truncal ... OMIM:608612
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Anterior Segment Dysgenesis 6
Corneal neovascularization OMIM:617315
Alstrom Syndrome
Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid... OMIM:203800
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:255120
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Glycerol Kinase Deficiency
Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... ORPHA:77293
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced subcutaneous adipose t... OMIM:606721
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Dilatation of the renal pelvis, Re... ORPHA:2044
Mosaic Trisomy 20
Horseshoe kidney, Abnormal spinal cord morphology, Cryptorchidism, Abnormality of the kidney ORPHA:1724
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Proteasome-Associated Autoinflammatory Syndrome 1
Loss of facial adipose tissue, Hypertriglyceridemia, Adipose tissue loss, Lipodystrophy, Decrease... OMIM:256040
Adrenomyeloneuropathy
Urinary retention, Urinary bladder sphincter dysfunction, Adrenocorticotropic hormone excess, Dor... ORPHA:139399
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Hyperlipidemia, Calcinosis ORPHA:90154
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ... ORPHA:189427
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Hyperlipidemia, Reduce... OMIM:248370
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
19P13.12 Microdeletion Syndrome
Hyperlipidemia ORPHA:254346
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Generalized lipodystrophy, Hypertriglyceridemia OMIM:619127
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Epididymal c... OMIM:136140
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of C... ORPHA:289390
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Atypical Werner Syndrome
Generalized lipodystrophy, Lipoatrophy, Hypertriglyceridemia ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Wiedemann-Rautenstrauch Syndrome
Absence of subcutaneous fat, Lipoatrophy, Reduced subcutaneous adipose tissue, Hypertriglyceridemia OMIM:264090
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:110
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Loss of facial adipose tissue, Reduced subcutaneou... ORPHA:3455
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Absent gallbladder, Cryptorchidism, Hydrone... ORPHA:3310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Acute Disseminated Encephalomyelitis
Myelitis, Abnormal spinal cord morphology ORPHA:83597
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Superficial Siderosis
Functional abnormality of the bladder, Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Amoebiasis Due To Free-Living Amoebae
Intrarenal abscess, Increased red blood cell count, Abnormal spinal cord morphology ORPHA:68
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Limb Body Wall Complex
Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida, Abnormality of the kidney ORPHA:2369
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Alström Syndrome
Dorsocervical fat pad, Hyperlipidemia, Hypertriglyceridemia ORPHA:64

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 Ecscr

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 Ecscr.

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

Title Journal IMPC Allele PubMed ID
Endothelial Cell Surface Expressed Chemotaxis and Apoptosis Regulator (ECSCR) Regulates Lipolysis in White Adipocytes via the PTEN/AKT Signaling Pathway. PloS one (December 2015) Ecscrtm1a(KOMP)Wtsi PMC4686900

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ecscrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Ecscrtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ecscrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ecscrtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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