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Gene: Tmem115 MGI:1930765

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Gene Summary

Name:
transmembrane protein 115
Synonyms:
Pl6

Order Alleles

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
increased lean body mass Tmem115tm1(KOMP)Vlcg HET Early adult 4.86×10-05
preweaning lethality, complete penetrance Tmem115tm1(KOMP)Vlcg HOM   Early adult 0.00
edema Tmem115tm1.1(KOMP)Vlcg HOM E15.5 0.00
increased circulating bilirubin level Tmem115tm1(KOMP)Vlcg HET Early adult 5.83×10-06
increased kidney weight Tmem115tm1(KOMP)Vlcg HET Early adult 3.75×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Embryo LacZ

LacZ images wholemount

24 Images

View images

Human diseases caused by Tmem115 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 Tmem115 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Rotor Syndrome
Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Bilirubinuria ORPHA:3111
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg... OMIM:620010
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased body weight, Renal insufficiency, Increased total bilirubin ORPHA:890
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Lymphatic Malformation 3
Lymphedema OMIM:613480
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Neonatal hyperbilirubinemia, Small for gestational age ORPHA:3363
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
White Sponge Nevus 2
Edema OMIM:615785
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Lacticaciduria, Alaninuria, Hyperg... OMIM:616299
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia OMIM:266120
Infantile Sialic Acid Storage Disease
Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyper... OMIM:269920
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:235555
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Lymphatic Malformation 10
Lymphedema OMIM:619369
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal ... ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Failure to thri... OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Abnormality of the lower urinary tract ORPHA:101009
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure... OMIM:227810
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration OMIM:214950
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal urinary color ORPHA:234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... ORPHA:158057
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Nephroblastoma OMIM:618272
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Abnormal urinary color ORPHA:90037
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Elevated hepatic ... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency ORPHA:713
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... OMIM:608836
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Small for gestational age, Failure to thrive, Reduc... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:211600
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevated circulating cr... OMIM:232800
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:607765
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, 4-Hydroxyphenylpyruvi... OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Renal tubular dysfu... OMIM:614886
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica... OMIM:617093
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Ma... ORPHA:251004
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, We... OMIM:613673
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... OMIM:619662
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:613812
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Unconjugated hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level OMIM:266200
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration ORPHA:69665
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Splenomegaly, Hyperbilirubinemia OMIM:224120
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... ORPHA:3008
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Cystic Echinococcosis
Hyperbilirubinemia, Renal cyst, Weight loss, Membranous nephropathy, Hepatomegaly ORPHA:400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Small for gestational age, Truncal obesity ORPHA:73272
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Splenomegaly, Proteinuria, Hepato... OMIM:617303
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:294
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,... OMIM:229600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehy... OMIM:300908
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Conjugated hyperbil... OMIM:614887
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Hepatome... ORPHA:348
Lathosterolosis
Horseshoe kidney, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Glycogen Storage Disease Xii
Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase... OMIM:611881
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Failure to thrive, Hyperbilirubinemia, Bilatera... OMIM:606812
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Hepatomegaly, Conjug... ORPHA:567983
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Failure to thrive, Elevated circu... OMIM:614866
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Failure to thrive ORPHA:39812
Rh Deficiency Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Isolated Biliary Atresia
Failure to thrive, Splenomegaly, Severe failure to thrive, Dark yellow urine, Hepatomegaly, Conju... ORPHA:30391
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Hereditary Spherocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly ORPHA:822
Autoimmune Hepatitis
Splenomegaly, Glomerulonephritis, Increased total bilirubin ORPHA:2137
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Renal Fanconi syndrome, Hyperca... OMIM:557000
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Enlarged kidney, Failure to thrive ORPHA:79128
Caroli Disease
Splenomegaly, Weight loss, Conjugated hyperbilirubinemia, Hepatomegaly, Polycystic kidney dysplasia ORPHA:53035
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemi... ORPHA:79259
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... OMIM:208540
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly OMIM:259720
Caroli Syndrome
Hyperbilirubinemia, Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia, Conjuga... ORPHA:480520
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... OMIM:616843
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:608885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney ORPHA:168569
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... OMIM:208500
Mirizzi Syndrome
Hyperbilirubinemia, Dark urine ORPHA:521219
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Hyperbilirubinemia, Abnormality of the kidney ORPHA:464321
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, He... OMIM:301068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... ORPHA:505248
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Failure to thrive, Splenomegaly, Cardiomegaly, Mucopolysacch... OMIM:252500
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Liver Disease, Severe Congenital
Aminoaciduria, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic kidneys, Inc... OMIM:619991
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... ORPHA:186
Reynolds Syndrome
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypokalemia, Hypercalciur... ORPHA:508
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Renal insufficiency, Splenomegaly, Renal cyst, Left ventricular hypertrophy, ... OMIM:613610
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Obesity, Large for gestational age, Vesicoureteral reflux, Splenomega... ORPHA:116
Ogden Syndrome
Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge... OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Obesity, Hyperbilirubinemia, Decreased body weight, Hematuria, Micropenis, Ove... OMIM:619475
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... ORPHA:79328
X-Linked Intellectual Disability, Nascimento Type
Micropenis, Neonatal hyperbilirubinemia, Vesicoureteral reflux, Hypospadias ORPHA:163956
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbilirubinemia OMIM:618278
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Renal malr... ORPHA:500095
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Recurrent urinary tract infections, Slender build, Hypocalcem... OMIM:613658
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin ... ORPHA:79277
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Incre... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Failure to thrive, Hyperbilirubinemia, Renal cyst, Micropenis, Polycystic kidne... OMIM:210710
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Obesity, Truncal obesit... OMIM:615873
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactiv... OMIM:620376
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Failure to thrive, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Right ventricular hypertrophy OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction OMIM:300896
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega... OMIM:312870
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Splenomegaly, Hypocalcemia, Increased VLDL choleste... OMIM:243800
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Cachexia, Enlarged kidney ORPHA:744

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 Tmem115

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 Tmem115.

No publications found that use IMPC mice or data for Tmem115.

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
Tmem115tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Tmem115tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells, Tissue

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