Gene Summary

Name:
transmembrane protein 115
Synonyms:
Pl6

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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous
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.

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated 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
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Porphyrinuria, Bilirubinuria ORPHA:3111
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... 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
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Proteinu... OMIM:620010
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia 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
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... OMIM:619868
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:237800
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight, Renal insufficiency, Hepatomegaly ORPHA:890
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Multiple renal cysts ORPHA:2924
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... OMIM:604387
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Lymphatic Malformation 3
Lymphedema OMIM:613480
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Hyp... OMIM:616278
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Hepatomegaly, Unconjugated hyperbilirubinemia OMIM:210500
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
White Sponge Nevus 2
Edema OMIM:615785
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Red urine, Increased urinary porphobilinoge... OMIM:618892
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminuria, Hyperglutaminemia, Alaninuria, Lac... OMIM:616299
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria OMIM:266120
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia,... OMIM:269920
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:235555
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Lymphatic Malformation 10
Lymphedema OMIM:619369
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Increased circulating iron concentration, Splenomegaly, Elevated... ORPHA:766
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Hyperbilirubinemia, Renal cyst, Abnormal serum bile acid concentration, Failure to ... ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Proteinuri... OMIM:613404
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Elevated circul... 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
Hepatomegaly, Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular d... OMIM:227810
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color ORPHA:234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia OMIM:214950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Large for gestational age, Enlarged kidney OMIM:618272
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Hepatosplenomegaly, Splenomegaly, Conjugated h... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia 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, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Conjugated hyperbilirubinemia OMIM:619484
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Renal tubular atrophy, Right ventric... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elevated circulating creatine kinase co... OMIM:232800
Liver Failure, Infantile, Transient
Hepatomegaly, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hypoalbu... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia 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
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Wolcott-Rallison Syndrome
Hepatomegaly, Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Chronic ki... ORPHA:1667
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Increased total bilirubin, Renal hypoplasia, ... 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
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:616689
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy... OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Obesity, Hypercalcemia, Proteinuria, Macroscopic ... ORPHA:251004
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity OMIM:609734
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Hypospadias, Hyperbilirubinemia, Unconjugated hyperbilir... OMIM:613673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Failure to thrive, Hyperammonemia, Hydronephrosis, Conjugated hyper... OMIM:617093
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein concentr... OMIM:617049
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:185000
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alpha-fetoprotein con... OMIM:619662
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Hypophosphatemic ricke... OMIM:276700
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:613812
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia OMIM:266200
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Failure to thrive... OMIM:603553
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia, Small for gestational age ORPHA:69665
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Small for gestational age OMIM:224120
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hypoglutaminemia, Hyperglutamatemia, I... ORPHA:3008
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Renal cyst, Weight loss, Membranous nephropathy ORPHA:400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Splenomegaly, Ele... OMIM:251880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Truncal obesity, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proxima... OMIM:229600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Hemoglobinuria, Splenomegaly, Unconju... OMIM:300908
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Dicarboxylic aciduria, Conjugated... OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Increased urinary glycerol, Hyperalaninemia, Neonatal hyperbilirubin... ORPHA:348
Lathosterolosis
Hyperammonemia, Hyperbilirubinemia, Elevated circulating lathosterol concentration, Horseshoe kidney OMIM:607330
Glycogen Storage Disease Xii
Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase... OMIM:611881
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Splenomegaly, Neonatal hyperbilirubinemia, Abnormal blood potassium co... ORPHA:3202
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Fumarase Deficiency
Bilateral fetal pyelectasis, Hyperbilirubinemia, Failure to thrive, Elevated urine fumaric acid l... OMIM:606812
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjug... ORPHA:567983
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A... ORPHA:14
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Hypospadias, Polycy... OMIM:614866
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Neonatal hyperbilirubinemia ORPHA:288
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Graft Versus Host Disease
Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia ORPHA:39812
Rh Deficiency Syndrome
Hyperbilirubinemia, Hepatosplenomegaly, Reduced haptoglobin level ORPHA:71275
Isolated Biliary Atresia
Severe failure to thrive, Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubi... ORPHA:30391
Wilson Disease
Hepatomegaly, Increased urinary copper concentration, Decreased circulating ceruloplasmin concent... OMIM:277900
Hereditary Spherocytosis
Hyperbilirubinemia, Hepatomegaly, Splenomegaly ORPHA:822
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly, Glomerulonephritis ORPHA:2137
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hypercalciuria, Hyperbilirubinemia, Failure to thrive, 3-Methylglutaric aciduria, R... OMIM:557000
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Hepatomegaly, Weight loss ORPHA:79128
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Caroli Disease
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Conjugated hyperbilirubinemia, Weight loss ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly OMIM:259720
Caroli Syndrome
Abnormality of the kidney, Hepatomegaly, Hyperbilirubinemia, Polycystic kidney dysplasia, Conjuga... ORPHA:480520
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob... ORPHA:90038
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis ORPHA:168569
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal ... OMIM:208500
Mirizzi Syndrome
Hyperbilirubinemia, Dark urine ORPHA:521219
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Abnormal renal cortex morphology, Hyperbilirubinemia ORPHA:464321
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Hypoalbuminemia, Heavy prot... ORPHA:505248
Hardikar Syndrome
Hepatomegaly, Hydroureter, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral... OMIM:301068
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Micropenis ORPHA:163979
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Degcags Syndrome
Abnormal renal medulla morphology, Hepatomegaly, Hypospadias, Recurrent urinary tract infections,... OMIM:619488
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonat... ORPHA:90674
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... ORPHA:731
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts ORPHA:464329
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Failur... OMIM:252500
Neurooculorenal Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen... OMIM:620305
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Liver Disease, Severe Congenital
Hepatomegaly, Hypospadias, Hypocalcemia, Recurrent urinary tract infections, Hyperbilirubinemia, ... OMIM:619991
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinem... ORPHA:186
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis, Hepatomegaly, Splenomegaly OMIM:613471
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,... ORPHA:447
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, In... ORPHA:508
Beckwith-Wiedemann Syndrome
Large for gestational age, Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaur... ORPHA:116
Cranioectodermal Dysplasia 2
Hepatomegaly, Hyperbilirubinemia, Renal cyst, Splenomegaly, Left ventricular hypertrophy, Renal i... OMIM:613610
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glomerulosclerosis, Card... OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hematuria, Hypospadias, Hyperbilirubinemia, Decreased body weight, Failure to thrive, Obesity, Ov... OMIM:619475
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... ORPHA:79328
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Micropenis, Hypospadias, Neonatal hyperbilirubinemia ORPHA:163956
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Unconjugated hyperbilirubinemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Mult... ORPHA:500095
Yellow Fever
Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia, Failure to thr... OMIM:613658
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ... ORPHA:79277
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating creatinine conce... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Hyperbilirubinemia, Renal cyst, Failure to thrive, Renal hypoplasia,... OMIM:210710
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Failure to thrive, Obesit... OMIM:615873
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Failure to thrive, Hepatospl... OMIM:620376
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Failure to thrive, Cardiomegaly, Horseshoe kidney OMIM:306955
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Right ventricular hypertrophy, Unconjugated hyperbilirubinemia OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovaginal fistula OMIM:300896
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thr... OMIM:243800
Proteus Syndrome
Enlarged kidney, Long penis, Cachexia, Enlarged polycystic ovaries, Renal cyst, Splenomegaly 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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