Gene Summary

Name:
trafficking regulator of GLUT4 (SLC2A4) 1
Synonyms:
Tusc5,  LOST1,  C130069F04Rik

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 exploration in new environment Trarg1em2(IMPC)Tcp HOM Early adult 1.09×10-13
decreased locomotor activity Trarg1em2(IMPC)Tcp HOM Early adult 3.78×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Histopathology

Images

2 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Trarg1 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 Trarg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Lipodystrophy, Lipoatrophy OMIM:613877
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... OMIM:612526
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Cole Disease
Hyperglycemia OMIM:615522
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res... ORPHA:528
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Short Syndrome
Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diab... OMIM:269880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc... OMIM:615381
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... ORPHA:79083
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Failure to thrive, Small for gestational age OMIM:214150
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Hyperglycemia, Decreased serum tes... ORPHA:465508
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... ORPHA:2348
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to t... OMIM:609069
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Short Syndrome
Insulin resistance, Diabetes mellitus, Lipodystrophy, Weight loss ORPHA:3163
Dend Syndrome
Hyperglycemia ORPHA:79134
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In... OMIM:617253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hyperglycemia, Failure to ... ORPHA:99885
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy OMIM:613327
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Werner Syndrome
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... ORPHA:902
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia... OMIM:227810
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... OMIM:616222
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Insulin resistance, Diabetes mellitus, Hypothyroidism OMIM:616541
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ... OMIM:209900
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Insulin resistance, Delayed puberty ORPHA:90154
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Whipple Disease
Insulin resistance, Hypothyroidism, Cachexia ORPHA:3452
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... ORPHA:79474
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Obesity OMIM:615630
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Obesity ORPHA:3191
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:124000
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoacidosis, Type I diabete... ORPHA:358
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus OMIM:260370
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Low Phospholipid-Associated Cholelithiasis
Overweight, Diabetes mellitus, Obesity ORPHA:69663
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Increased body weight, Ketotic hypoglycemia, Fasting hypoglycemia ORPHA:79240
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Sotos Syndrome
Neonatal hypoglycemia, Increased body weight, Glucose intolerance, Overgrowth, Tall stature OMIM:117550
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... ORPHA:3157
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure to thrive ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:220111
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight OMIM:182290
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Increased body... ORPHA:398069
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Dysbetalipoproteinemia
Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Type I diabetes mellitus OMIM:619269
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Gaisböck Syndrome
Overweight, Diabetes mellitus, Increased circulating renin level, Obesity ORPHA:90041
Pmm2-Cdg
Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating growth hormone concentration, ... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Liver Disease, Severe Congenital
Abnormal circulating thyroid hormone concentration, Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:619991
Carney Complex
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... ORPHA:1359
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Hellp Syndrome
Increased body weight ORPHA:244242

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 Trarg1

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 Trarg1.

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

Title Journal IMPC Allele PubMed ID
TUSC5 regulates insulin-mediated adipose tissue glucose uptake by modulation of GLUT4 recycling. Molecular metabolism (August 2015) Trarg1tm1a(KOMP)Wtsi PMC4632119

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trarg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trarg1em2(IMPC)Tcp Exon Deletion Mice
Trarg1tm43774(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Trarg1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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