Gene Summary

Name:
ARP8 actin-related protein 8
Synonyms:
ARP8,  5730542K05Rik

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 circulating sodium level Actr8tm1.1(KOMP)Vlcg HET Early adult 8.49×10-05
preweaning lethality, complete penetrance Actr8tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased erythrocyte cell number Actr8tm1.1(KOMP)Vlcg HET Early adult 1.89×10-05
decreased hemoglobin content Actr8tm1.1(KOMP)Vlcg HET Early adult 1.60×10-05
hyperactivity Actr8tm1.1(KOMP)Vlcg HET   Early adult 8.85×10-05
embryonic lethality prior to organogenesis Actr8tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased hematocrit Actr8tm1.1(KOMP)Vlcg HET Early adult 2.22×10-06

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone 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)
Esophagus 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)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb 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)
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)
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
Quadriceps 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)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)
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 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

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%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Sleep Wake

Wake state (bmp file)

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

2 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Actr8 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 Actr8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Schizophrenia 15
Hyperactivity OMIM:613950
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elev... ORPHA:94093
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia OMIM:304800
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Impulsivity, Hyperactivity, Thrombocytopenia, Agitation OMIM:620423
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hypon... ORPHA:100924
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Anorexia ORPHA:178029
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anorexia, Decreased proportion of naive T cel... OMIM:619381
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Alg8-Cdg
Anemia, Hyponatremia, Thrombocytopenia ORPHA:79325
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Whipple Disease
Polydipsia, Splenomegaly, Hyponatremia, Anorexia, Anemia ORPHA:3452
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Anorexia, Hyperc... ORPHA:199299
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Renal Hypoplasia, Bilateral
Anemia, Hyperkalemia, Hyponatremia ORPHA:97362
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Hyperlysinemia, Type I
Anemia, Hypoornithinemia, Hyperlysinemia, Hyperactivity OMIM:238700
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly, Anorexia ORPHA:549
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcem... ORPHA:95409
Porphyria Variegata
Anemia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess, Thrombocytopenia,... ORPHA:810
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Panhypophysitis
Hyponatremia, Polydipsia, Normochromic anemia ORPHA:95513
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Infant Botulism
Hyponatremia, Dysphagia, Anorexia ORPHA:178478
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremia, Salt cr... ORPHA:85138
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Hartsfield Syndrome
Hypernatremia OMIM:615465
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology... ORPHA:760
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Hypercholesterolemia, Hypertriglyc... ORPHA:275761
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Anorexia ORPHA:361
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Hyponatremia ORPHA:293978
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Japanese Encephalitis
Anorexia, Hyponatremia, Neutrophilia ORPHA:79139
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia ORPHA:544482
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyponatremia, Hypokalemia, Attention deficit hyperactivity disorder, Hyp... ORPHA:534
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Pseudobulbar paralysis ORPHA:79276
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Argininemia
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Reduced erythrocyte arginase activity OMIM:207800
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentrat... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Familial Dysautonomia
Hyponatremia ORPHA:1764
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... OMIM:619991
Holoprosencephaly
Hyponatremia, Abnormality of the spleen ORPHA:2162
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Hyperlipidemia, Hyponatremia, Polyphagia, Aggressive behavio... ORPHA:293987
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Self-injurious behavior, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Actr8

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 Actr8.

No publications found that use IMPC mice or data for Actr8.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Actr8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Actr8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Actr8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Actr8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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