Gene Summary

Name:
salt inducible kinase 1
Synonyms:
Snf1lk,  Msk

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
decreased total body fat amount Sik1tm1.1(KOMP)Vlcg HOM Early adult 1.95×10-09
increased lean body mass Sik1tm1.1(KOMP)Vlcg HOM Early adult 2.49×10-08
increased bone mineral content Sik1tm1.1(KOMP)Vlcg HOM Early adult 1.26×10-05
increased kidney weight Sik1tm1.1(KOMP)Vlcg HOM   Early adult 6.19×10-09
increased heart weight Sik1tm1.1(KOMP)Vlcg HOM Early adult 4.66×10-07

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Aorta  Wholemount images  Section images heterozygote 75% (3 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images  Section images heterozygote 100% (4 of 4)
Cecum  Wholemount images  Section images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Diaphragm  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Wholemount images  Section images heterozygote 75% (3 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 100% (4 of 4)
Eye  Wholemount images  Section images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Gonadal fat pad  Wholemount images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Wholemount images  Section images heterozygote 75% (3 of 4)
Jejunum  Wholemount images  Section images heterozygote 75% (3 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Liver  Wholemount images  Section images heterozygote 75% (3 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Mesenteric lymph node  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Oviduct  Wholemount images  Section images heterozygote 50% (2 of 4)
Pancreas  Wholemount images  Section images heterozygote 75% (3 of 4)
Parathyroid gland  Section images heterozygote 50% (2 of 4)
Parotid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Quadriceps  Wholemount images  Section images heterozygote 100% (4 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images  Section images heterozygote 75% (3 of 4)
Spleen  Wholemount images  Section images heterozygote 100% (4 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 50% (2 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images  Section images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 100% (4 of 4)
Trigeminal V nerve  Section images heterozygote 25% (1 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.58% (3 of 515)
aorta 0.19% (1 of 518)
blood 0.0%
bone marrow 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 5.57% (19 of 341)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
chest bone Unavailable
colon 15.87% (20 of 126)
diaphragm 0.0%
duodenum 2.56% (3 of 117)
epididymis 13.6% (17 of 125)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 499)
hindlimb 0.0%
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
ileum 15.83% (19 of 120)
jejunum 7.69% (9 of 117)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.36% (1 of 277)
midbrain 0.0%
olfactory lobe 0.39% (2 of 519)
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
stomach pyloric region 0.0%
striatum 0.58% (3 of 521)
sublingual gland 0.0%
submandibular gland 1.59% (2 of 126)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
tongue 3.42% (4 of 117)
trachea 0.58% (3 of 520)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 528)
vagina 0.0%
vas deferens 4.65% (16 of 344)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

216 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

58 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

11 Images

Human diseases caused by Sik1 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 Sik1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty ORPHA:1934
Early Myoclonic Encephalopathy
ORPHA:1935
Infantile Spasms Syndrome
ORPHA:3451
Developmental And Epileptic Encephalopathy 30
OMIM:616341

The table below shows human diseases predicted to be associated to Sik1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Ethanolaminosis
Cardiomegaly OMIM:227150
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... ORPHA:280356
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive ORPHA:67046
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism OMIM:617872
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... OMIM:615415
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly, Craniosynostosis ORPHA:88643
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Small for gestational age OMIM:614702
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age ORPHA:231147
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism OMIM:614736
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Diabetes mellitus, Insulin re... ORPHA:528
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive OMIM:617156
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypogonadism ORPHA:163693
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... ORPHA:95496
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidne... ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Diaphanospondylodysostosis
Nephrogenic rest, Inguinal hernia, Absent in utero rib ossification, Cystic renal dysplasia, Enla... OMIM:608022
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:85447
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Propionic Acidemia
Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysp... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... OMIM:201400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608612
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Nephri... OMIM:617303
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... OMIM:306955
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Recurrent hypoglycemia, Failure to thrive, Impaired gluconeogenesis OMIM:212140
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Camptodactyly, Enlarged kidney, Lipody... ORPHA:168569
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Osteoporosis, Enlarged kidne... OMIM:232200
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Osteoporosis, ... OMIM:232220
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... OMIM:208540
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia OMIM:613327
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney ORPHA:276280
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney, Omphalocele OMIM:200995
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Insulin r... ORPHA:508
Lymphoid Interstitial Pneumonia
Failure to thrive, Hepatomegaly, Enlarged kidney, Abnormality of connective tissue, Weight loss ORPHA:79128
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Alg9-Cdg
Abnormal bone ossification, Atrial septal defect, Hepatomegaly, Ureteral hypoplasia, Hypoplasia o... ORPHA:79328
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated urinary delta-a... OMIM:276700
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Osteolysis, Pericardial ... ORPHA:464329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Atrial septal defect, Flexion contracture, Hepatosplenomegaly, Heparan sulfat... ORPHA:505248
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Precocious puberty, Type II diabetes ... OMIM:176270
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Hepatomegaly, Inguinal hernia, Splenomegaly, Craniosynostosis, Osteopenia, Enl... OMIM:252500
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive ORPHA:5
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:151660
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance OMIM:248370
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Nephroblastoma, Multicystic kidney dysplasia, Abnormal right ventricle morpholog... ORPHA:500095
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Neonatal death, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Neonatal death, Decreased circulating cortisol level OMIM:618839
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Congenital diaphragmatic hernia, Inguinal hernia, Splenomegaly, Co... ORPHA:116
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Failure to thrive, Hepatomegaly, Osteopenia, Osteoporosis, Enlarged kidney, Tubu... ORPHA:79259
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive OMIM:210200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Glycosuria... ORPHA:79474
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive OMIM:617049
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Diabete... OMIM:608594
Ogden Syndrome
Bicuspid aortic valve, Global glomerulosclerosis, Secundum atrial septal defect, Atrial septal de... OMIM:300855
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Type II... OMIM:269700
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Congenital diaphragmatic hernia, Right ventricular hypertroph... OMIM:312870
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99226
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Visceral Steatosis, Congenital
Hypoglycemia, Neonatal death OMIM:228100
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Liver Disease, Severe Congenital
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:619991
Pmm2-Cdg
Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty ORPHA:1934
Developmental And Epileptic Encephalopathy 30
OMIM:616341
Infantile Spasms Syndrome
ORPHA:3451
Early Myoclonic Encephalopathy
ORPHA:1935

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 Sik1

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 Sik1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Salt-inducible kinase 1 regulates bone anabolism via the CRTC1-CREB-Id1 axis. Cell death & disease (October 2019) Sik1tm1.1(KOMP)Vlcg PMC6823377
Sympathetic inputs regulate adaptive thermogenesis in brown adipose tissue through cAMP-Salt inducible kinase axis. Scientific reports (July 2018) Sik1tm1(KOMP)Vlcg PMC6054673
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Sik1tm1(KOMP)Vlcg PMC4739719
Salt-Inducible Kinase 1 Terminates cAMP Signaling by an Evolutionarily Conserved Negative-Feedback Loop in β-Cells. Diabetes (April 2015) Sik1tm1.1(KOMP)Vlcg 25918234

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MGI Allele Allele Type Produced
Sik1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sik1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sik1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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