Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

SNF related kinase
SNRK,  2010012F07Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Snrk 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 Snrk by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:306000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Death in infancy, Cardiomegaly OMIM:227150
Glycogen Storage Disease Vi
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased circulating ceruloplasmi... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:615703
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Failure to thrive,... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10
Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of... OMIM:613370
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypoc... OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant dia... OMIM:604367
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apo... OMIM:207750
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... OMIM:601410
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hirsutism, Insulin... OMIM:151660
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Short stature, Ins... OMIM:262190
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circulating cortisol ... OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Hypertriglyceridemia OMIM:182290
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Dilated cardiomyopathy, Bicuspid aortic valve ORPHA:401923
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Death in childhood OMIM:619064
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Death in infancy, Increased LDL cholestero... OMIM:278000
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... ORPHA:79237
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hypertrichosis, Hyperglycemia, Adipose tis... OMIM:246200
Short Syndrome
Intrauterine growth retardation, Small for gestational age, Birth length less than 3rd percentile... OMIM:269880
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial ... ORPHA:2089
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Increased ... ORPHA:528
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... ORPHA:247585
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia,... OMIM:210250
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... OMIM:606176
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal heart morphology, Vent... ORPHA:370
Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Death in childhood OMIM:269920
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... OMIM:619662
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipose tissue, Diabetes mel... OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentrat... ORPHA:64753
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Left ventricular hypertrophy ORPHA:90065
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Small for gestational age, Type I diabetes mellitus OMIM:618857
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... OMIM:212140
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Campt... OMIM:175700
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Cardiomyopa... OMIM:618839
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Death in infancy, Elevated circulating creatine kinase concentration... OMIM:618835
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulin... ORPHA:552
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Hirsutism, Hypoglycemia, Low anterior hairline, Failure to thrive, Hypergl... OMIM:220111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Splenomegaly, H... ORPHA:264580
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral valve calcification, Ventricular hypertrophy, Hypercholesterolemia, Hypertriglyceridemia, ... ORPHA:363618
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hypercholesterole... ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase... OMIM:201475
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormality of body weight, Hirsutism, Type II diabetes mellitus, Insulin r... ORPHA:2298
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level, Abdominal obesity, Increased body weight OMIM:615954
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Isolated Sedoheptulokinase Deficiency
Severe postnatal growth retardation, Short stature, Arthrogryposis multiplex congenita, Steatorrh... ORPHA:440713
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Increased circula... OMIM:235200
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Hepatomegaly, Decreased HDL cholesterol concentration,... ORPHA:470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kina... ORPHA:228308
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypertrichosis, Hirsutism, Low anterior hairline, Short stature, Intrauteri... ORPHA:769
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Atrial septal defect OMIM:619471
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid OMIM:266500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Death in infancy, Cardiomegaly OMIM:618886
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Immunodeficiency 47
Hepatomegaly, Death in infancy, Splenomegaly, Hypercholesterolemia, Decreased circulating copper ... OMIM:300972
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Growth delay, Failure to thrive, Impaired glucose tolerance, Glycosuria, Hy... ORPHA:2088
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Cardiomegaly, Abno... ORPHA:57777
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hepatosplenomegaly, Steatorrhea, H... ORPHA:275761
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Pericardial eff... ORPHA:26793
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Failure to thrive, Contractures of the joints of the lower limbs... ORPHA:99885
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Severe intrauterine growth retardation, Fasting hypoglycemia, Hypertrichosis, Insulin resistance,... ORPHA:508
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceride... ORPHA:79259
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal circulating acetylcarnitine concent... ORPHA:71212
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Elevated transferrin saturation, Car... ORPHA:465508
Alagille Syndrome 1
Ventricular septal defect, Hypercholesterolemia, Atrial septal defect, Tetralogy of Fallot, Hyper... OMIM:118450
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Cardiomegaly, Abnorma... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Atypical Werner Syndrome
Abnormal hair morphology, Short stature, Insulin-resistant diabetes mellitus, White forelock, Fas... ORPHA:79474
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Hypoalbuminemia, Primum atrial septal defect, Ventricular septal defect, Hepatomega... OMIM:619534
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Death in childhood OMIM:268800
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:308552
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Death in infancy, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldoste... ORPHA:534
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine ki... OMIM:614921
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase concentration ORPHA:268
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect ORPHA:79330
Beta-Ketothiolase Deficiency
Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased serum beta-hexos... OMIM:252500
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Hepatomegaly, Cardiomegaly ORPHA:349
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Heart Defects, Congenital, And Other Congenital Anomalies
Intrauterine growth retardation, Failure to thrive, Congenital diaphragmatic hernia, Hyperglycemi... OMIM:600001
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Cardiomegaly, Pulmonic stenosis, ... OMIM:602782
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia, Dilated cardiomyopathy ORPHA:273
Mitchell-Riley Syndrome
Hyperglycemia, Intrauterine growth retardation OMIM:615710
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Splenomegaly, Death in adole... OMIM:256040
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Greenberg Dysplasia
Hepatomegaly, Neonatal death, Cardiomegaly, Stillbirth, Hepatosplenomegaly OMIM:215140
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Growth delay, Hyperglycemia ORPHA:3008
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... ORPHA:581
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Short stature, Hyperglycemia, Long eyelashes, Curly hair, Thick hair, Thic... ORPHA:444077
Dend Syndrome
Hyperglycemia ORPHA:79134
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Hyperlipidemia, Hyperglycemia, Obesity, Delayed puberty ORPHA:293987
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney OMIM:130650
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly ORPHA:51
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Enlarged kidney, Elevated ... ORPHA:116
Thyrotoxic Periodic Paralysis
Obesity, Weight loss, Postprandial hyperglycemia ORPHA:79102
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Hypophosph... ORPHA:51608


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 Snrk

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 Snrk.

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

Title Journal IMPC Allele PubMed ID
Snf1-related kinase improves cardiac mitochondrial efficiency and decreases mitochondrial uncoupling. Nature communications (January 2017) Snrktm1c(KOMP)Wtsi Snrktm1a(KOMP)Wtsi PMC5286102

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MGI Allele Allele Type Produced
Snrktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Snrktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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