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Gene: P2rx4 MGI:1338859

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Gene Summary

Name:
purinergic receptor P2X, ligand-gated ion channel 4
Synonyms:
D5Ertd444e,  P2X4

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume P2rx4tm1b(EUCOMM)Wtsi HOM Early adult 2.05×10-05
abnormal clavicle morphology P2rx4tm1b(EUCOMM)Wtsi HOM Early adult 1.08×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 0.0% (0 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images
Echo

M-Mode Images

32 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Adult LacZ

LacZ Images Wholemount

18 Images

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Human diseases caused by P2rx4 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 P2rx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... OMIM:161900
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... ORPHA:976
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Cleidocranial Dysplasia 2
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... OMIM:620099
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Short clavicles, Hypoplastic pelvis, Absent thumb, Hypoplastic scapulae OMIM:618022
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... OMIM:169550
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Thromboc... ORPHA:2307
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Clubbing, Thrombocytopenia, Splenomegaly OMIM:620367
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Syndactyly, Clinodactyly, Neu... ORPHA:2169
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Short thumb, Neutropenia OMIM:612562
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Hepatosplenomegaly, Brachydactyly, Bent long bone OMIM:614592
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Short clavicles, Short long bone, Flat acetabular roof, Short metacar... OMIM:615777
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Triphalangeal thumb, Ma... OMIM:105650
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb, Hip dysplasia ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Cone-shaped epip... ORPHA:2484
Xylt1-Cdg
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Clinodactyl... ORPHA:370930
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Short clavicles, Recurrent shoulder dislocation, Down-sloping shoulders, Finger joint contracture OMIM:212112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Fgfr2-Related Bent Bone Dysplasia
Short clavicles, Steep acetabular roof, Hypoplastic ischia, Hepatosplenomegaly, Incomplete ossifi... ORPHA:313855
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Restrictive Dermopathy 2
Short clavicles, Overtubulated long bones OMIM:619793
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Short clavicles OMIM:606220
Crane-Heise Syndrome
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Hypoplastic scapulae, Aplastic... ORPHA:1512
Enlarged Parietal Foramina
Broad thumb, Short clavicles ORPHA:60015
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Telan... ORPHA:774
Van Den Ende-Gupta Syndrome
2-3 toe cutaneous syndactyly, Ulnar bowing, Slender long bone, Dislocated radial head, Camptodact... OMIM:600920
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Tapered finger, Small hand ORPHA:401923
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... OMIM:308050
Achondrogenesis, Type Ia
Hypoplasia of the radius, Short clavicles, Hypoplastic ischia, Abnormal femoral metaphysis morpho... OMIM:200600
Microgastria-Limb Reduction Defect Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly, Ectrodactyly, Absent ha... ORPHA:2538
Pycnodysostosis
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... OMIM:265800
Sweeney-Cox Syndrome
Short clavicles, 2-5 toe syndactyly, Asplenia, 2-4 finger syndactyly, 2-5 finger cutaneous syndac... OMIM:617746
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Hurler Syndrome
Diaphyseal undertubulation, Short clavicles, Flared iliac wing, Hypoplasia of the femoral head, M... OMIM:607014
Blomstrand Lethal Chondrodysplasia
Flared metaphysis, Metaphyseal cupping, Short metacarpal, Bowing of the long bones, Abnormal epip... ORPHA:50945
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Flat capital femoral epiphysis, Flared metaphysis, A... ORPHA:536471
Melnick-Needles Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Cone-shaped epiphyses of the phalan... OMIM:309350
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... OMIM:181450
Chime Syndrome
Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/... ORPHA:3474
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Flat acetabular roof, Tapered finger, Short femoral neck OMIM:617159
Focal Dermal Hypoplasia
Finger syndactyly, Short clavicles, Split hand, Hypoplastic pelvis, Split foot, Camptodactyly of ... ORPHA:2092
Van Maldergem Syndrome 1
Short 4th metacarpal, Short clavicles, Camptodactyly, Short fourth metatarsal, Cutaneous finger s... OMIM:601390
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis o... OMIM:608612
Van Maldergem Syndrome 2
Short 4th metacarpal, Hip subluxation, Short clavicles, Short fourth metatarsal, Cutaneous finger... OMIM:615546
Holt-Oram Syndrome
Proximal placement of thumb, Aplasia of the 1st metacarpal, 1-2 finger syndactyly, Short humerus,... OMIM:142900
Mandibuloacral Dysplasia
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal... ORPHA:2457
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Flared metaphysis, Dislocated radial head, Short clavicles, Phalangeal dislocation, Bowing of the... OMIM:130070
Marbach-Rustad Progeroid Syndrome
Femur fracture, Short clavicles OMIM:619322
Familial Osteodysplasia, Anderson Type
Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Aplastic clavicle ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ... ORPHA:2636
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Camptodactyly, Acroosteo... OMIM:248370
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal finge... ORPHA:2658
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Slender long bone, Camptodactyly of finger, Patellar aplasia, Abn... ORPHA:2554
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Splenomegaly... OMIM:617088
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Aplastic clavicle OMIM:616546
Eisenmenger Syndrome
Increased mean corpuscular volume, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214
Cdags Syndrome
Short clavicles OMIM:603116
Floating-Harbor Syndrome
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, Cone-shaped ... OMIM:136140
Yunis-Varon Syndrome
Flat acetabular roof, Absent thumb, Short distal phalanx of finger, Clinodactyly, Aplastic clavic... OMIM:216340
Occipital Horn Syndrome
Genu valgum, Short clavicles, Pelvic bone exostoses, Short humerus, Capitate-hamate fusion, Coxa ... OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle ORPHA:85199
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short finger, Broad finger, Short clavicles, Short fifth metatarsal, Tapered finger, Short fourth... OMIM:619841
Floating-Harbor Syndrome
Dislocated radial head, Short clavicles, Short metacarpal, Short thumb, Brachydactyly, Hip dyspla... ORPHA:2044
Restrictive Dermopathy 1
Rocker bottom foot, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Over... OMIM:275210
Hutchinson-Gilford Progeria Syndrome
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Coxa valga, Hip dislocation ORPHA:740
Microphthalmia, Syndromic 1
Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Down-slopin... OMIM:309800

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 P2rx4

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 P2rx4.

No publications found that use IMPC mice or data for P2rx4.

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
P2rx4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice
P2rx4tm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
P2rx4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
P2rx4tm40299(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
P2rx4tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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