Gene Summary

Name:
RNA binding motif protein 4
Synonyms:
Lark1,  Rbm4a

IMPC Data Collections

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

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.

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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 Rbm4 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 Rbm4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Small for gestational age OMIM:606176
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... ORPHA:79230
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria ORPHA:2089
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Failure to thrive in infancy OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Weight loss, Hepatomegaly, Decreased serum t... ORPHA:465508
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Hepatocellular carc... ORPHA:2088
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Abnormal circulating h... ORPHA:280356
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Weight loss, Hypoglycemia, Hypoinsulinemia, Neoplasm of the liver,... ORPHA:2126
Short Syndrome
Hyperglycemia, Small for gestational age, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Fai... ORPHA:99885
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601165
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precocious puberty OMIM:614736
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Type II dia... ORPHA:3085
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Pol... OMIM:151660
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemia, Impaired ... ORPHA:769
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Hypoglycemia, Ectopic posterior pituitary, De... ORPHA:95496
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Adre... OMIM:201400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Hypopituitarism ORPHA:90065
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Diab... OMIM:557000
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Failure to thrive, Hypoglycemia OMIM:617049
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas physiology, Diabete... ORPHA:93111
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:602579
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestasis, Hepatitis, Cholestatic liver disease, Portal hypertension ORPHA:440713
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Thyrot... ORPHA:79102
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomeg... ORPHA:528
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Dend Syndrome
Hyperglycemia ORPHA:79134
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Hyperg... OMIM:600001
Tyrosinemia, Type I
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Failure to thrive, Splenomegaly,... OMIM:276700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Reduced pancreatic beta cells, Type I diabetes mellitus, Insulin-resistant diabetes... OMIM:226980
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypohidrosis, Premature adrenarche, Central hypothyroidism, Decreased re... ORPHA:293987
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Ovarian neoplasm, Abnormality of circulating leptin l... ORPHA:79474
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Scorpion Envenomation
Acute pancreatitis, Hyperglycemia, Hyperhidrosis, Glycosuria ORPHA:466677
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Failure to thrive, Splenom... OMIM:613327
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Hyperglycemia, Decreased response to growth hormone stimuation test, Obesity ORPHA:444077
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Streak ovary, Insulin-resistant diab... ORPHA:3464
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Prader-Willi Syndrome
Cryptorchidism, Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure t... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Acute... OMIM:608594
Perlman Syndrome
Cryptorchidism, Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:267000
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Acute... OMIM:269700
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Polysplenia, Hepatoblastoma, Hypoglycemia, Hepatomegaly, Splenomegaly, Supernumer... ORPHA:373
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Hepatic calcification, Pancreatic islet-cell hyperplasia OMIM:215140
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Cholelit... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99226
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Polysplenia, Hepatomegaly, Splenomegaly, Supernumerary nipple, Pancreatic islet-c... OMIM:312870
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Aplasia of the ovary, Insuli... 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 Rbm4

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 Rbm4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rbm47tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Rbm47tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rbm47tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rbm47tm1a(EUCOMM)Wtsi