Gene Summary

Name:
relaxin family peptide receptor 4
Synonyms:
Gpr100,  Rln3r2

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 fasting circulating glucose level Rxfp4tm1.1(KOMP)Vlcg HOM   Early adult 5.74×10-05
decreased urine magnesium level Rxfp4tm1.1(KOMP)Vlcg HOM Early adult 2.01×10-07

Download data as:  TSV  XLS

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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
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section 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)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Epididymis N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
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 Not available
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)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
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 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Rxfp4 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 Rxfp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmental glomeruloscler... OMIM:308990
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatinine clearance,... ORPHA:405
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Increased adipose tissue, Obesity ORPHA:71529
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
East Syndrome
Enuresis, Renal salt wasting, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele... ORPHA:199343
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria ORPHA:34527
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypoglycemia OMIM:201910
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypercalciuria, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612286
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes mellitus, Nephrocalcinosis, ... OMIM:616026
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of the urinary system, Hypoi... ORPHA:99886
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypercalciuria, Hypermagnesiuria, Abnormal renal resorption, Nephrocalcinosis, Hyperprostaglandin... ORPHA:73224
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hypoglycemia OMIM:614736
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Renal magnesium wasting OMIM:263800
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria ORPHA:428
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria, Glycosuria ORPHA:2089
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaciduria, Postprandia... ORPHA:2088
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Diabetes mellitus, ... OMIM:613845
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wasting, Decreased glomerular f... OMIM:613090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Renal sodium wasting OMIM:612780
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Familial Isolated Hyperparathyroidism
Hypercalciuria, Renal insufficiency, Nephrocalcinosis, Hyperphosphaturia ORPHA:99879
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypercalciuria, Nephrocalcinosis, Nephrolithiasis OMIM:601198
Hypercalcemia, Infantile, 1
Hypercalciuria, Nephrocalcinosis, Polyuria, Nephrolithiasis OMIM:143880
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Chronic kidney disease, Renal magnesium wasting OMIM:218330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias OMIM:614732
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... OMIM:277900
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperphosphaturia, Glycosuria OMIM:227810
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Hypernatriuria, Ketotic hypoglycemia, Recurrent urinary tract infections, ... ORPHA:361
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hyperglycemia OMIM:615954
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting OMIM:264350
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Medullary nephrocalcinosis ORPHA:157215
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Familial Hypoaldosteronism
Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting ORPHA:427
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis ORPHA:320
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Renal tubular dysfunction OMIM:241530
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Hypophosphatasia, Infantile
Hypercalciuria, Phosphoethanolaminuria, Nephrocalcinosis, Elevated urine pyrophosphate OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Increased urinary potassium, Renal sal... ORPHA:89938
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Bicarbonaturia, Hypoglycemia, G... OMIM:229600
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Insulin resistance, Focal segmental glomerulosclerosis, N... ORPHA:358
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Penoscrotal hypospadias ORPHA:90791
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Aminoaciduria, Hyperphosphaturia OMIM:239200
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria OMIM:617671
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Familial Parathyroid Adenoma
Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Calcium nephrolithiasis, Nephrocalcinosis ORPHA:99877
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Neonatal hypoglycemia, Hypernatriuria, Abnormal u... ORPHA:168558
Acute Adrenal Insufficiency
Decreased urinary potassium, Renal insufficiency, Renal salt wasting, Hypoglycemia ORPHA:95409
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Neonatal hypoglycemia, Hypernatriuria, Abnormal u... ORPHA:289548
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Nephrocalcinosis, Hyperphosphaturia OMIM:156400
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Renal salt wasting ORPHA:90795
Addison Disease
Decreased urinary potassium, Renal salt wasting, Type I diabetes mellitus, Hypoglycemia ORPHA:85138
Oculoskeletodental Syndrome
Mucopolysacchariduria, Hypercalciuria, Renal agenesis OMIM:618440
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Recurrent infantile hypoglycemia, Insulin res... ORPHA:508
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Hypercalciuria, Renal insufficiency, N... ORPHA:437
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia OMIM:163200
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia ORPHA:562
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Postprandial hyperglycemia, Urinary retention ORPHA:79102
Primary Parathyroid Hyperplasia
Hypercalciuria, Renal insufficiency, Nephrocalcinosis, Nephrolithiasis ORPHA:99878
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Renal salt wasting ORPHA:275761
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypercalciuria, Elevated urinary c... ORPHA:653
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:99880
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Neonatal hypoglycemia, Long penis, Hypernatriuria, Elevated urinary epi... ORPHA:90794
Parathyroid Carcinoma
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Neonatal hypoglycemia, Enlarged kidney, Congenital megaureter, Hypoglycemia... ORPHA:116
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Renal Fanconi ... OMIM:309000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis OMIM:300990
Williams-Beuren Syndrome
Abnormal renal morphology, Nephrocalcinosis, Glucose intolerance, Renal hypoplasia, Recurrent uri... OMIM:194050
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis ORPHA:666
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis ORPHA:652
Cystic Fibrosis
Hypercalciuria OMIM:219700
Sarcoidosis, Susceptibility To, 1
Hypercalciuria OMIM:181000
Sarcoidosis
Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Nephrocalcinosis, Nephrolithiasis ORPHA:797
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis ORPHA:51608

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 Rxfp4

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 Rxfp4.

No publications found that use IMPC mice or data for Rxfp4.

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MGI Allele Allele Type Produced
Rxfp4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Rxfp4tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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