Gene Summary

Name:
somatostatin receptor 5
Synonyms:
sst5,  Smstr5

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 startle reflex Sstr5em1(IMPC)Mbp HOM   Early adult 3.26×10-07

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.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

Human diseases caused by Sstr5 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 Sstr5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin, Obesity OMIM:617885
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Central diabetes insipidus, Hypothyroidism, Delayed puber... ORPHA:411590
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Diarrhea 13
Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, ... OMIM:617872
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hepatomegaly, Decreased serum leptin, Diabetic ke... OMIM:615238
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hyperhidrosis, Small for gestational age, Hypoglycemia ORPHA:231147
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis... ORPHA:435651
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Hyperhidrosis, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Increased hepatic glycogen co... ORPHA:369
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge... ORPHA:79237
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Prolonged neonatal jaundice, Decr... ORPHA:199296
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neonat... OMIM:231100
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:306000
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomega... OMIM:261680
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Failure to thrive, Hypoglycemia OMIM:617049
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus, Pancrea... OMIM:609069
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Hepatic steatosis, Splenomegaly, Pancreatitis, H... ORPHA:280365
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Ci... OMIM:608594
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomeg... OMIM:269700
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Rett Syndrome
Increased serum leptin, Failure to thrive, Cholecystitis ORPHA:778
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin OMIM:614008
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Severe failure to thrive, Weight loss, Pubertal development... ORPHA:740
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Sstr5

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 Sstr5.

No publications found that use IMPC mice or data for Sstr5.

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
Sstr5tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sstr5em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Sstr5tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter