Gene Summary

Name:
solute carrier family 2 (facilitated glucose transporter), member 2
Synonyms:
Glut-2,  liver-type glucose transporter,  Glut2

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
preweaning lethality, complete penetrance Slc2a2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased glycosylated hemoglobin level Slc2a2tm1b(KOMP)Wtsi HET Early adult 1.12×10-05
increased fasting circulating glucose level Slc2a2tm1b(KOMP)Wtsi HET Early adult 9.09×10-05

Download data as:  TSV  XLS

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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
Bone  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images heterozygote 100% (4 of 4)
Epididymis  Wholemount images heterozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote Ambiguous
Liver  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote Ambiguous
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote Not available
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parotid gland  Wholemount images heterozygote Ambiguous
Prostate gland  Wholemount images heterozygote Not available
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote Ambiguous
Submandibular gland  Wholemount images heterozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Colon N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Ambiguous
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thalamus N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (5 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Ear N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forearm N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forelimb N/A heterozygote 0.0% (0 of 5)
Handplate N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower leg N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Upper arm N/A heterozygote 0.0% (0 of 5)
Upper leg N/A heterozygote 0.0% (0 of 5)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
cranium
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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 Wholemount

87 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Human diseases caused by Slc2a2 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 Slc2a2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Slc2a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... ORPHA:438274
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, Hy... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:616192
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... OMIM:260370
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Hypertrigly... OMIM:617253
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance OMIM:145750
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
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Steatorrhea OMIM:615935
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus OMIM:277700
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... ORPHA:2088
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Hypertriglyceridem... OMIM:151660
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum testosterone concentration,... ORPHA:465508
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Wolfram-Like Syndrome
Glucose intolerance, Hypothyroidism, Male hypogonadism, Primary gonadal insufficiency, Central di... ORPHA:411590
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia OMIM:619737
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Glucose intolerance, Glycosuria OMIM:616539
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:269880
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bloom Syndrome
Elevated hemoglobin A1c, Leukemia, Type II diabetes mellitus OMIM:210900
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A1c, Insulin-resis... OMIM:269700
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hypoplasia, Hepati... OMIM:610199
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... OMIM:167800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant dia... OMIM:248370
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular... ORPHA:3085
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
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Cholestasis, Hepatitis, Porta... ORPHA:440713
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Obesity, Abnormal testis morphology ORPHA:791
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... ORPHA:456312
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Glucose intolerance OMIM:619127
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Insulin resista... ORPHA:528
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Hepatomegaly, Hyperglycemia ORPHA:134
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... OMIM:137920
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Decreased body wei... ORPHA:508
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Hypertriglycer... ORPHA:79086
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabet... OMIM:600001
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... ORPHA:2470
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Cholestasis, Impaired glucose tolerance, Hepatic... OMIM:615630
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... OMIM:602579
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus ORPHA:261265
Atypical Werner Syndrome
Failure to thrive, Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Decreased body ... ORPHA:79474
Shwachman-Diamond Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth ... ORPHA:811
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Small for g... ORPHA:556955
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... OMIM:602782
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... ORPHA:2255
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Failure to thrive, Abnormality of the liver, Impaired glucose tolerance OMIM:610131
Hemochromatosis, Type 1
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic ... OMIM:235200
Pyruvate Carboxylase Deficiency
Hypoglycemia, Failure to thrive, Hepatomegaly, Hyperglycemia ORPHA:3008
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... ORPHA:2457
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... OMIM:203800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Impaired glucose tolerance OMIM:614407
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibros... OMIM:616263
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Dextrocardia
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen ORPHA:1666
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with toxic single thy... ORPHA:79102
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Increased circulating ACTH level, Impa... OMIM:219090
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Insulin re... OMIM:613327
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit... OMIM:608594
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperglycemia ORPHA:466677
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Hyperglycemia ORPHA:444077
Liver Disease, Severe Congenital
Hydrocele testis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperinsuli... OMIM:619991
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Pancreatic hypoplasia, Biliary hyperplasia, Cryp... ORPHA:83617
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration, Diabetes mellitus ORPHA:48818
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Decreased ... OMIM:176270
Sotos Syndrome
Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Increased body weight, C... OMIM:117550
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... ORPHA:358
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Failure to thrive, Small for gestational age, Impaired glucose tolerance, Hy... OMIM:606721
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Adrenocortical cytomegaly, Neonatal hypogly... OMIM:130650
Ataxia-Telangiectasia
Glucose intolerance, Failure to thrive, Hypoplasia of the thymus, Delayed puberty, Diabetes melli... OMIM:208900
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Glucose intolerance, Abnormality of the thymus, Impaired glucose tolerance OMIM:208910
Autosomal Dominant Progressive External Ophthalmoplegia
Glucose intolerance, Failure to thrive, Hyperthyroidism, Hypothyroidism, Diabetes mellitus, Goite... ORPHA:254892
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99413
Turner Syndrome
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99228
Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99226
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Abnormality of the thyroid gland, Abnormal salivary g... ORPHA:449432
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Aniridia 1
Glucose intolerance, Increased proinsulin:insulin ratio OMIM:106210
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hypogo... ORPHA:64
Yellow Fever
Acute pancreatitis, Pancreatic hyperplasia, Jaundice ORPHA:99829
Primrose Syndrome
Glucose intolerance, Hypergonadotropic hypogonadism, Truncal obesity, Hypothyroidism, Delayed pub... OMIM:259050
Williams-Beuren Syndrome
Glucose intolerance, Early onset of sexual maturation, Hypothyroidism, Portal hypertension, Diabe... OMIM:194050
Pmm2-Cdg
Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonad... ORPHA:79318
Fanconi-Bickel Syndrome
Failure to thrive, Glycosuria OMIM:227810

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 Slc2a2

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 Slc2a2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of function of renal Glut2 reverses hyperglycaemia and normalises body weight in mouse models of diabetes and obesity. Diabetologia (March 2022) Slc2a2tm1c(KOMP)Wtsi Slc2a2tm1a(KOMP)Wtsi 35290476
Reducing Glut2 throughout the body does not result in cognitive behaviour differences in aged male mice. BMC research notes (September 2020) Slc2a2  tm1b(KOMP)Wtsi  PMC7493158
Intestinal invalidation of the glucose transporter GLUT2 delays tissue distribution of glucose and reveals an unexpected role in gut homeostasis. Molecular metabolism (November 2016) Slc2a2tm1a(KOMP)Wtsi PMC5220280

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MGI Allele Allele Type Produced
Slc2a2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc2a2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc2a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc2a2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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