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Gene: Rims2 MGI:2152972

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
regulating synaptic membrane exocytosis 2
Synonyms:
Syt3-rs,  2810036I15Rik,  RIM2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rims2 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 Rims2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970

The table below shows human diseases predicted to be associated to Rims2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, Reac... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol... OMIM:604367
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... ORPHA:263455
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Essential Fructosuria
Hyperglycemia ORPHA:2056
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:232700
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... OMIM:614736
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism ORPHA:2849
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... ORPHA:2298
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly ORPHA:79237
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Hype... OMIM:605373
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... ORPHA:94086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Portal fibrosis, Hepatic fibrosis, Cirrhosi... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cryptorchidism, De... ORPHA:95496
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Pure Autonomic Failure
Anhidrosis, Abnormality of circulating catecholamine level ORPHA:441
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308700
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Abnormal hepatic glycoge... ORPHA:2088
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia OMIM:306000
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
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 Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperglycemia OMIM:608612
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia OMIM:602579
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Ovarian cyst, Hyper... OMIM:269880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Cole Disease
Hyperglycemia OMIM:615522
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:2457
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Decrea... ORPHA:199299
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Necrotizing Enterocolitis
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... OMIM:269700
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis OMIM:613327
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Delayed puberty, Fasting hypoglycemia, Hepatocellular carcinoma, Panc... OMIM:232200
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Pancreatitis, Hepatocellular carci... OMIM:232220
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hypoglycemia, Cirrhosis OMIM:617049
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... ORPHA:508
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Dend Syndrome
Hyperglycemia ORPHA:79134
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency OMIM:307030
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-... ORPHA:373
Atypical Werner Syndrome
Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan... ORPHA:79474
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Delay... OMIM:232240
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Scorpion Envenomation
Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Hypergly... OMIM:220111
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-cell hyperplas... OMIM:312870
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318

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 Rims2

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 Rims2.

No publications found that use IMPC mice or data for Rims2.

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
Rims2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rims2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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