Gene Summary

Name:
misato 1, mitochondrial distribution and morphology regulator
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Msto1em1(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Msto1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Msto1em1(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Msto1em1(IMPC)Tcp HOM   E9.5 0.00
enlarged kidney Msto1em1(IMPC)Tcp HET Early adult 0.00
decreased body length Msto1em1(IMPC)Tcp HET Early adult 1.60×10-06
increased circulating triglyceride level Msto1em1(IMPC)Tcp HET Early adult 1.96×10-05
abnormal seminal vesicle morphology Msto1em1(IMPC)Tcp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

97 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Histopathology

Images

2 Images

Human diseases caused by Msto1 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.

The table below shows human diseases associated to Msto1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Elevated circulating creatine kinase concentration OMIM:617675
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Mildly elevated creatine kinase, Increased circulating prolactin concentration ORPHA:502423

The table below shows human diseases predicted to be associated to Msto1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Glycogen Storage Disease Vi
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Morbid Obesity And Spermatogenic Failure
Azoospermia, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hy... OMIM:615703
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... OMIM:245900
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo... OMIM:617575
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232220
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hyper... OMIM:619013
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... OMIM:608836
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcytic anemia, Lymp... ORPHA:168569
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypoalbuminemia, Leuk... OMIM:617303
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232200
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... OMIM:276700
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... ORPHA:97290
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... ORPHA:1414
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin conc... ORPHA:540
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Glomerulopathy, Pancreatitis, Hypertriglycer... ORPHA:2348
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Temple Syndrome
Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyc... OMIM:616222
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Ch... ORPHA:79259
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hepatic st... ORPHA:528
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, Pancreatitis, Hype... ORPHA:79083
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom... ORPHA:251004
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Ci... OMIM:604367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Renal tubular acidosis, Polycystic ... ORPHA:264580
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:435651
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... ORPHA:247585
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Cryptorchidism, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly OMIM:615381
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Elevated circulating ... ORPHA:79240
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Abnormal hepatic glycogen s... ORPHA:2088
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Elevated circulating... ORPHA:54251
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:363400
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Polycystic ovaries, Elevated circulating cre... ORPHA:435660
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:66628
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat... OMIM:617591
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:179494
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormality of the urinary system, Hypercholesterolemia, Hypertriglyce... OMIM:182290
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... ORPHA:412
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Proteinuri... ORPHA:369
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi... OMIM:613179
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Decreased testicular size, Lymphopenia, Leukope... OMIM:617053
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ... ORPHA:31150
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomeg... ORPHA:505248
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... OMIM:608978
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypercholesterolemia, Hy... ORPHA:819
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Proteinuria, Cir... ORPHA:79086
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A... OMIM:618280
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Polyuria, Hypertrigl... OMIM:618183
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hyperkalemia, Hypernatriuria, Abnormal urine potassium concentration, Hepatospl... ORPHA:275761
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... OMIM:601186
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase conce... OMIM:610717
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... ORPHA:79328
Leprechaunism
Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia, Hyperaldost... ORPHA:508
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pan... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyc... OMIM:613327
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... OMIM:252500
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ne... OMIM:608594
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ne... OMIM:269700
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Hyperlipi... ORPHA:567983
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa... OMIM:176270
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Chole... OMIM:118450
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... ORPHA:77293
Ogden Syndrome
Polycythemia, Decreased testicular size, Hyperbilirubinemia, Cryptorchidism, Microvesicular hepat... OMIM:300855
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom... OMIM:306955
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98855
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Hy... ORPHA:98907
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glycosuria, Hepatic steatosis, Elevated circulati... OMIM:617253
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciur... ORPHA:369837
Alstrom Syndrome
Nephritis, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulat... OMIM:203800
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Immunodeficiency 87 And Autoimmunity
Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, A... OMIM:619573
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Hypertriglycer... ORPHA:261476
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... ORPHA:500095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Elevated circulating... OMIM:255120
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Bardet-Biedl Syndrome
Chronic kidney disease, Hepatic fibrosis, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hyp... ORPHA:110
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Neutro... OMIM:300755
Glycerol Kinase Deficiency
Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia, Hyperglyc... OMIM:307030
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Nephroblastoma, S... OMIM:312870
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly... ORPHA:744
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... ORPHA:98908
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Decreased HDL cholesterol concentration, Splenomegaly, Hypertriglyc... OMIM:256040
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketonuria, Glycosuria ORPHA:2089
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma,... ORPHA:363618
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Increased urinary cortisol level, Hypera... ORPHA:189427
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Hypospadias ORPHA:254346
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Xan... OMIM:232240
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Hypertriglyceridemia ORPHA:536532
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Hyp... ORPHA:91
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hypertriglyceridem... OMIM:619127
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis, Elevated circulating creatine kinase ... ORPHA:565612
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Atypical Werner Syndrome
Glycosuria, Hypogonadism, Hepatic steatosis, Hypertriglyceridemia, Abnormal testis morphology, Re... ORPHA:79474
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Wiedemann-Rautenstrauch Syndrome
Long penis, Cryptorchidism, Hypoplasia of the thymus, Hypertriglyceridemia, Hypospadias OMIM:264090
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent urinary tract infections, Decreased resp... ORPHA:3455
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Hypercholesterolemia, Polyuria, Hypertriglyceridemia OMIM:606721
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... OMIM:241080
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Hyperlipidemia OMIM:608612
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat... ORPHA:324
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypogonadism, S... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hyperlipidemia ORPHA:90153
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... ORPHA:391665
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Elevated circulating creatine kinase concentration OMIM:617675
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Mildly elevated creatine kinase, Increased circulating prolactin concentration ORPHA:502423

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.

Phenotype Allele Zygosity Sex Life Stage
Skeletal muscle - MPATH pathological process term dystrophy Msto1em1(IMPC)Tcp HET Early adult

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 Msto1.

No publications found that use IMPC mice or data for Msto1.

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
Msto1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Msto1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Msto1em1(IMPC)Tcp Exon Deletion Mice

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