Gene Summary

Name:
pannexin 1
Synonyms:
N/A

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
decreased circulating serum albumin level Panx1tm1b(KOMP)Wtsi HOM Early adult 9.14×10-06
decreased thigmotaxis Panx1tm1b(KOMP)Wtsi HOM   Early adult 2.02×10-05
abnormal behavior Panx1tm1b(KOMP)Wtsi HOM   Early adult 2.02×10-05

Download data as:  TSV  XLS

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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 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 4)
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 25% (1 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
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 0.71% (4 of 560)
aorta 0.18% (1 of 568)
blood 0.0%
bone marrow 0.0%
brain 0.88% (5 of 569)
brainstem 0.18% (1 of 562)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 566)
cecum 5.92% (21 of 355)
cerebellum 0.36% (2 of 551)
cerebral cortex 0.36% (2 of 550)
chest bone Unavailable
colon 17.19% (22 of 128)
diaphragm 0.0%
duodenum 3.88% (5 of 129)
epididymis 15.22% (21 of 138)
esophagus 1.78% (7 of 394)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.75% (1 of 134)
heart 0.36% (2 of 556)
hindlimb 0.0%
hippocampus 0.53% (3 of 565)
hypothalamus 0.36% (2 of 558)
ileum 14.5% (19 of 131)
jejunum 9.38% (12 of 128)
kidney 4.7% (27 of 575)
large intestine 5.39% (30 of 557)
liver 0.0%
lower urinary tract 0.18% (1 of 544)
lung 0.36% (2 of 552)
lymph node 0.18% (1 of 555)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 304)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.18% (1 of 567)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 545)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.36% (2 of 561)
peyers patch 0.0%
pituitary gland 0.18% (1 of 565)
prostate gland 2.13% (12 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.85% (32 of 547)
spinal cord 0.53% (3 of 563)
spleen 0.54% (3 of 554)
stomach 3.35% (19 of 568)
stomach pyloric region 0.0%
striatum 0.54% (3 of 560)
sublingual gland 0.0%
submandibular gland 1.49% (2 of 134)
testis 1.07% (6 of 562)
thymus 0.18% (1 of 566)
thyroid gland 3.21% (18 of 560)
tongue 3.12% (4 of 128)
trachea 0.53% (3 of 565)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 559)
vagina 0.0%
vas deferens 4.51% (17 of 377)
vascular system 0.0%
vesicular gland 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 Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Human diseases caused by Panx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Panx1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
ORPHA:488191
Oocyte Maturation Defect 7
OMIM:618550

The table below shows human diseases predicted to be associated to Panx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter OMIM:618347
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... OMIM:242150
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
Leishmaniasis
Hypoalbuminemia ORPHA:507
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Congenital Enterovirus Infection
Hypoalbuminemia, Irritability, Hyperammonemia ORPHA:292
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Depression, Anxiety, Abnormal circulating selenium concentration, Decreased serum iron, Decreased... ORPHA:89842
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Irritability, Self-mutilation OMIM:619487
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... OMIM:300853
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level ORPHA:277
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Decreased HDL cholesterol ... ORPHA:14
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... ORPHA:37042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Hypoalbuminemia, De... OMIM:277900
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Emotional lability, Hypercalcemia ORPHA:88673
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia OMIM:222470
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating fatty-acid concentration, Abnormal cir... ORPHA:2298
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... ORPHA:90363
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Abnormality of B ce... OMIM:600802
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Self-mutilation, Hypocholesterolemia, Hypoalbuminemia, Aggressive ... OMIM:270400
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function ORPHA:1830
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Vici Syndrome
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... OMIM:242840
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Orotic Aciduria
Impaired T cell function OMIM:258900
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... OMIM:618213
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion ORPHA:83471
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function OMIM:188400
Female Infertility Due To Oocyte Meiotic Arrest
ORPHA:488191
Oocyte Maturation Defect 7
OMIM:618550

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 Panx1

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 Panx1.

There are 54 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pannexin 1 activity in astroglia sets hippocampal neuronal network patterns. PLoS biology (December 2022) Panx1tm1a(KOMP)Wtsi PMC9728857
Activity and Stability of Panx1 Channels in Astrocytes and Neuroblastoma Cells Are Enhanced by Cholesterol Depletion. Cells (October 2022) Panx1tm1a(KOMP)Wtsi PMC9600160
ER-resident STIM1/2 couples Ca2+ entry by NMDA receptors to pannexin-1 activation. Proceedings of the National Academy of Sciences of the United States of America (August 2022) Panx1tm1a(KOMP)Wtsi PMC9456761
Endothelial pannexin 1-TRPV4 channel signaling lowers pulmonary arterial pressure in mice. eLife (September 2021) Panx1tm1c(KOMP)Wtsi PMC8448527
Capillary-associated microglia regulate vascular structure and function through PANX1-P2RY12 coupling in mice. Nature communications (September 2021) Panx1tm1d(KOMP)Wtsi PMC8421455
Pannexin 1 channels facilitate communication between T cells to restrict the severity of airway inflammation. Immunity (July 2021) Panx1tm1c(KOMP)Wtsi Panx1tm1a(KOMP)Wtsi 34283971
A venous-specific purinergic signaling cascade initiated by Pannexin 1 regulates TNFα-induced increases in endothelial permeability. Science signaling (March 2021) Panx1tm1c(KOMP)Wtsi PMC8011850
Brain endothelial cell TRPA1 channels initiate neurovascular coupling. eLife (February 2021) Panx1tm1c(KOMP)Wtsi PMC7935492
Adaptive thermogenesis in brown adipose tissue involves activation of pannexin-1 channels. Molecular metabolism (November 2020) Panx1tm1c(KOMP)Wtsi PMC7779784
Myeloid Pannexin-1 mediates acute leukocyte infiltration and leads to worse outcomes after brain trauma. Journal of neuroinflammation (August 2020) Panx1tm1a(KOMP)Wtsi PMC7441665
Mechanosensitive Vaginal Epithelial Adenosine Triphosphate Release and Pannexin 1 Channels in Healthy, in Type 1 Diabetic, and in Surgically Castrated Female Mice. The journal of sexual medicine (March 2020) Panx1tm1a(KOMP)Wtsi 32241676
Metabolites released from apoptotic cells act as tissue messengers. Nature (March 2020) Panx1tm1c(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi 32238926
Suppression of Presynaptic Glutamate Release by Postsynaptic Metabotropic NMDA Receptor Signalling to Pannexin-1. The Journal of neuroscience : the official journal of the Society for Neuroscience (December 2019) Panx1tm1a(KOMP)Wtsi PMC6975291
Age- and sex-dependent role of osteocytic pannexin1 on bone and muscle mass and strength. Scientific reports (September 2019) Panx1tm1c(KOMP)Wtsi PMC6761284
Pannexin-1 promotes NLRP3 activation during apoptosis but is dispensable for canonical or noncanonical inflammasome activation. European journal of immunology (August 2019) Panx1tm1d(KOMP)Wtsi 31411729
Constitutive SRC-mediated phosphorylation of pannexin 1 at tyrosine 198 occurs at the plasma membrane. The Journal of biological chemistry (February 2019) Panx1tm1c(KOMP)Wtsi 30814251
Epithelial and Endothelial Pannexin1 Channels Mediate AKI. Journal of the American Society of Nephrology : JASN (June 2018) Panx1tm1c(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi PMC6050932
Pannexin-1 channels on endothelial cells mediate vascular inflammation during lung ischemia-reperfusion injury. American journal of physiology. Lung cellular and molecular physiology (May 2018) Panx1tm1c(KOMP)Wtsi 29745255
Pannexin-1 channels contribute to seizure generation in human epileptic brain tissue and in a mouse model of epilepsy. Science translational medicine (May 2018) Panx1tm1c(KOMP)Wtsi Panx1tm1a(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi 29848662
Endothelial cell Pannexin1 modulates severity of ischemic stroke by regulating cerebral inflammation and myogenic tone. JCI insight (March 2018) Panx1tm1c(KOMP)Wtsi PMC5926909
Mouse Panx1 Is Dispensable for Hearing Acquisition and Auditory Function. Frontiers in molecular neuroscience (November 2017) Panx1tm1a(KOMP)Wtsi Panx1tm1b(KOMP)Wtsi PMC5712377
Possible roles for ATP release from RBCs exclude the cAMP-mediated Panx1 pathway. American journal of physiology. Cell physiology (August 2017) Panx1tm1d(KOMP)Wtsi PMC5814586
Hematopoietic pannexin 1 function is critical for neuropathic pain. Scientific reports (February 2017) Panx1tm1c(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi PMC5307344
Blocking microglial pannexin-1 channels alleviates morphine withdrawal in rodents. Nature medicine (January 2017) Panx1tm1a(KOMP)Wtsi 28134928
Systemic Adenosine Triphosphate Impairs Neutrophil Chemotaxis and Host Defense in Sepsis. Critical care medicine (January 2017) Panx1tm1a(KOMP)Wtsi PMC5546305
Glial pannexin1 contributes to tactile hypersensitivity in a mouse model of orofacial pain. Scientific reports (December 2016) Panx1tm1c(KOMP)Wtsi Panx1tm1a(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi PMC5133615
Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release. The Journal of clinical investigation (October 2016) Panx1tm1a(KOMP)Wtsi PMC5127677
Pannexin1 Channels Are Required for Chemokine-Mediated Migration of CD4+ T Lymphocytes: Role in Inflammation and Experimental Autoimmune Encephalomyelitis. Journal of immunology (Baltimore, Md. : 1950) (April 2016) Panx1tm1a(KOMP)Wtsi PMC4918517
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Panx1tm1a(KOMP)Wtsi PMC4739719
Pannexin-1 and P2X7-Receptor Are Required for Apoptotic Osteocytes in Fatigued Bone to Trigger RANKL Production in Neighboring Bystander Osteocytes. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (January 2016) Panx1tm1a(KOMP)Wtsi PMC4915221
Pannexin 1 channels regulate leukocyte emigration through the venous endothelium during acute inflammation. Nature communications (August 2015) Panx1tm1c(KOMP)Wtsi PMC4824045
Pannexin 1 is required for full activation of insulin-stimulated glucose uptake in adipocytes. Molecular metabolism (July 2015) Panx1tm1c(KOMP)Wtsi PMC4563021
Mice Lacking Pannexin 1 Release ATP and Respond Normally to All Taste Qualities. Chemical senses (July 2015) Panx1tm1a(KOMP)Wtsi Panx1tm1b(KOMP)Wtsi PMC4635638
Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing. Scientific reports (June 2015) Panx1tm1a(KOMP)Wtsi PMC4451810
Pannexin 1 deficiency can induce hearing loss. Biochemical and biophysical research communications (May 2015) Panx1tm1a(KOMP)Wtsi PMC4464954
A molecular signature in the pannexin1 intracellular loop confers channel activation by the α1 adrenoreceptor in smooth muscle cells. Science signaling (February 2015) Panx1tm1c(KOMP)Wtsi PMC4358815
Pannexin 1 channels play essential roles in urothelial mechanotransduction and intercellular signaling. PloS one (August 2014) Panx1tm1a(KOMP)Wtsi PMC4149561
Inhibitors of the 5-lipoxygenase pathway activate pannexin1 channels in macrophages via the thromboxane receptor. American journal of physiology. Cell physiology (July 2014) Panx1tm1a(KOMP)Wtsi PMC4347744
Mitochondria are gate-keepers of T cell function by producing the ATP that drives purinergic signaling. The Journal of biological chemistry (July 2014) Panx1tm1a(KOMP)Wtsi PMC4162192
Bacterial RTX toxins allow acute ATP release from human erythrocytes directly through the toxin pore. The Journal of biological chemistry (May 2014) Panx1tm1a(KOMP)Wtsi PMC4081947
ATP and potassium ions: a deadly combination for astrocytes. Scientific reports (April 2014) Panx1tm1a(KOMP)Wtsi PMC3974143
Immunosuppression via adenosine receptor activation by adenosine monophosphate released from apoptotic cells. eLife (March 2014) Panx1tm1a(KOMP)Wtsi PMC3963506
Unexpected link between an antibiotic, pannexin channels and apoptosis. Nature (March 2014) Panx1tm1c(KOMP)Wtsi Panx1tm1a(KOMP)Wtsi Panx1tm1d(KOMP)Wtsi PMC4078991
Contribution of pannexin1 to experimental autoimmune encephalomyelitis. PloS one (June 2013) Panx1tm1a(KOMP)Wtsi PMC3688586
Kinetics of extracellular ATP in mastoparan 7-activated human erythrocytes. Biochimica et biophysica acta (June 2013) Panx1tm1a(KOMP)Wtsi PMC3999873
Promises and pitfalls of a Pannexin1 transgenic mouse line. Frontiers in pharmacology (May 2013) Panx1tm1c(KOMP)Wtsi Panx1tm1a(KOMP)Wtsi PMC3648696
Pannexin-1 influences peritoneal cavity cell population but is not involved in NLRP3 inflammasome activation. Protein & cell (April 2013) Panx1tm1a(KOMP)Wtsi PMC4875518
Pannexin 1 involvement in bladder dysfunction in a multiple sclerosis model. Scientific reports (January 2013) Panx1tm1a(KOMP)Wtsi PMC3701900
Anoxia-induced NMDA receptor activation opens pannexin channels via Src family kinases. The Journal of neuroscience : the official journal of the Society for Neuroscience (September 2012) Panx1tm1a(KOMP)Wtsi 22956847
Microglia proliferation is controlled by P2X7 receptors in a Pannexin-1-independent manner during early embryonic spinal cord invasion. The Journal of neuroscience : the official journal of the Society for Neuroscience (August 2012) Panx1tm1a(KOMP)Wtsi 22915101
ATP signaling is deficient in cultured Pannexin1-null mouse astrocytes. Glia (April 2012) Panx1tm1a(KOMP)Wtsi PMC3348971
Two non-vesicular ATP release pathways in the mouse erythrocyte membrane. FEBS letters (October 2011) Panx1tm1a(KOMP)Wtsi PMC3218561
Targeting pannexin1 improves seizure outcome. PloS one (September 2011) Panx1tm1a(KOMP)Wtsi PMC3175002
Rho signaling regulates pannexin 1-mediated ATP release from airway epithelia. The Journal of biological chemistry (May 2011) Panx1tm1a(KOMP)Wtsi PMC3143590

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MGI Allele Allele Type Produced
Panx1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Panx1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Panx1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Panx1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Panx1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Panx1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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