Gene Summary

Name:
RAS protein-specific guanine nucleotide-releasing factor 1
Synonyms:
CDC25,  Grfbeta,  Grf1,  CDC25Mm

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
increased lean body mass Rasgrf1tm1bNarl HOM Early adult 1.45×10-05
hyperactivity Rasgrf1tm1bNarl HOM Early adult 2.95×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Human diseases caused by Rasgrf1 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 Rasgrf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postnatal growth retardation OMIM:615961
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... OMIM:604367
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism OMIM:616113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance OMIM:145750
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth... OMIM:618985
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Insulin resista... ORPHA:528
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Decreased t... ORPHA:3085
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Atypical scarring of skin, Obesity, Ab... ORPHA:791
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Inguinal hernia, Femoral hernia, Cr... ORPHA:2849
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Short stature, Post... OMIM:609981
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Generalized lipodystrophy, Acute p... ORPHA:79086
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... OMIM:167800
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, He... OMIM:248370
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... OMIM:602579
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Lipodystrop... OMIM:613327
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Histidinemia
Hyperactivity ORPHA:2157
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Postprandial hyperglycem... ORPHA:769
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... ORPHA:508
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Atypical Werner Syndrome
Failure to thrive, Type II diabetes mellitus, Lipoatrophy, Ovarian neoplasm, Hyperinsulinemia, De... ORPHA:79474
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, Decreased ... OMIM:176270
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99413
Turner Syndrome
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99228
Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99226
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hypogo... ORPHA:64
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Elevated circulating growth hormone concentration... 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 Rasgrf1

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 Rasgrf1.

No publications found that use IMPC mice or data for Rasgrf1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rasgrf1tm1bNarl Reporter-tagged deletion allele (with selection cassette) Mice
Rasgrf1tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells

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