banner
Genes Phenotypes Help, News, Blog

Gene: Tmem115 MGI:1930765

Log in to follow

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
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
preweaning lethality, complete penetrance Tmem115tm1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
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, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema 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 2
Lymphedema OMIM:611944
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid... OMIM:620010
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Rotor Syndrome
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria ORPHA:3111
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia OMIM:179700
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:237800
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased body weight, 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
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Lymphatic Malformation 3
Lymphedema OMIM:613480
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration OMIM:243300
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... OMIM:616278
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
White Sponge Nevus 2
Edema OMIM:615785
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... OMIM:618892
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... OMIM:616299
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly OMIM:214900
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... ORPHA:247598
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Failure to thrive, Hyperbilirubinemia OMIM:235555
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, Fail... OMIM:269920
Lymphatic Malformation 10
Lymphedema OMIM:619369
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Spherocytosis, Type 4
Splenomegaly, Hyperbilirubinemia OMIM:612653
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal... ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... OMIM:613404
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Autosomal Dominant Spastic Paraplegia Type 29
Abnormality of the lower urinary tract, Hyperbilirubinemia ORPHA:101009
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalize... OMIM:227810
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hepatomegaly, Failure to thrive, Hyperbilirubinemia OMIM:214950
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age OMIM:618272
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color ORPHA:234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Spherocytosis, Type 1
Splenomegaly, Hyperbilirubinemia OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:601847
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Increased total bilirubin ORPHA:90037
Spherocytosis, Type 2
Splenomegaly, Hyperbilirubinemia OMIM:616649
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
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, Neonatal hyperbilirubinemia, Nocturia OMIM:609727
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... OMIM:608836
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... OMIM:232800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:211600
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine... OMIM:613070
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Hyperbilirubinemia OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Failure to thrive OMIM:607765
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbu... ORPHA:1667
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:616689
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... OMIM:617156
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbilir... OMIM:613673
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub... OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:185000
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:619662
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90036
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Failure to thrive, Hyperbilirubinemia OMIM:613812
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... OMIM:251880
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Small for gestational age, Hyperbilirubinemia OMIM:224120
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Cystic Echinococcosis
Hepatomegaly, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia ORPHA:400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... OMIM:603553
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, L... ORPHA:3008
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia ORPHA:69665
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232220
Fructose Intolerance, Hereditary
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular ... OMIM:229600
Hereditary Elliptocytosis
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... OMIM:300908
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Wilson Disease
Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... OMIM:277900
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinuria, H... OMIM:611881
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Hepatomegaly, Dicarboxylic aciduria, Increased circulating very lo... OMIM:614887
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... ORPHA:3202
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubin... ORPHA:348
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... OMIM:606812
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Graft Versus Host Disease
Failure to thrive, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Abnormal circulating fatt... ORPHA:567983
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Hepatomegaly, Cardiomegaly, Decreased... ORPHA:14
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Small for gestational age, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly... OMIM:614866
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia ORPHA:822
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Spleno... ORPHA:30391
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi... OMIM:557000
Autoimmune Hepatitis
Splenomegaly, Glomerulonephritis, Increased total bilirubin ORPHA:2137
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Weight loss, Polycystic kidney dysplas... ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Polycystic kidney dysplas... ORPHA:480520
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... OMIM:208500
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney ORPHA:168569
Lathosterolosis
Horseshoe kidney, Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbiliru... OMIM:607330
Hardikar Syndrome
Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections,... OMIM:301068
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Mirizzi Syndrome
Dark urine, Hyperbilirubinemia ORPHA:521219
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Abnormality of the kidney, Hyperbilirubinemia ORPHA:464321
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St... ORPHA:731
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Small for gestational age, Hypospadias, Bilater... OMIM:619488
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper... ORPHA:90674
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Elevated circulating... OMIM:619991
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... ORPHA:508
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... ORPHA:116
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro... OMIM:620305
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hyperbilirubinemia, Left ventricular... OMIM:613610
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Polycystic kidney dysplasia, Hyperbilirubinemia, Enlarge... OMIM:300855
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613471
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... ORPHA:79328
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Overweight, Obesity, Hematuria, Hyperbilirubinemia, Decreased body weight, Micropeni... OMIM:619475
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Failure to thrive OMIM:618278
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... ORPHA:500095
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Micropenis, Hypospadias, Neonatal hyperbilirubinemia ORPHA:163956
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... ORPHA:99829
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hyperbilirubinemia, Micropenis, Failur... OMIM:210710
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Obesity, Enuresis nocturna, Truncal obesity, Failure to thriv... OMIM:615873
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati... OMIM:619534
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Splenomegaly, Red-brown urine, Porphyrinuria, Incre... ORPHA:79277
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unc... OMIM:613658
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Failure to thrive, Enlarged kidney OMIM:306955
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Right ventricular hypertrophy OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Vesicovaginal fistula, Neonatal hyperbilirubinemia OMIM:300896
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Johanson-Blizzard Syndrome
Hepatomegaly, Small for gestational age, Hypospadias, Increased VLDL cholesterol concentration, U... OMIM:243800
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter