Gene Summary

Name:
replication protein A1
Synonyms:
Rpa,  RF-A,  RP-A,  5031405K23Rik,  70kDa

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
embryonic lethality prior to tooth bud stage Rpa1tm1b(KOMP)Wtsi HOM   E12.5 0.00
preweaning lethality, complete penetrance Rpa1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased hematocrit Rpa1tm1b(KOMP)Wtsi HET Early adult 2.08×10-09
increased heart weight Rpa1tm1b(KOMP)Wtsi HET   Early adult 4.23×10-05
embryonic lethality prior to organogenesis Rpa1tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased circulating free fatty acids level Rpa1tm1b(KOMP)Wtsi HET Early adult 4.14×10-06
decreased circulating glucose level Rpa1tm1b(KOMP)Wtsi HET Early adult 4.95×10-07
decreased erythrocyte cell number Rpa1tm1b(KOMP)Wtsi HET Early adult 1.48×10-12
increased mean corpuscular volume Rpa1tm1b(KOMP)Wtsi HET   Early adult 9.34×10-06
decreased hemoglobin content Rpa1tm1b(KOMP)Wtsi HET Early adult 2.10×10-11

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
Lung  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
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)
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 50% (1 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)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
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 Not available
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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
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)
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 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 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)
bone marrow 0.0%
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)
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)
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)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
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.

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Eye Morphology

Images Slit Lamp

3 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Sleep Wake

Wake state (bmp file)

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Human diseases caused by Rpa1 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 Rpa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
N Syndrome
Neoplasm, Leukemia, Abnormality of chromosome stability OMIM:310465
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Splenomegaly, Anemia, Type II dia... OMIM:616860
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Immunodeficiency 54
Reduced natural killer cell count, Lymphoproliferative disorder, Chromosome breakage, Splenomegaly OMIM:609981
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia ORPHA:859
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly, Hypoglycemia OMIM:618838
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Fanconi Anemia, Complementation Group N
Medulloblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma, Nephroblasto... OMIM:610832
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage, Ovarian neoplasm, Breast carcinoma OMIM:617883
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia OMIM:611590
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Shwachman-Diamond Syndrome
Abnormal heart morphology, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... OMIM:615550
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Bloom Syndrome
Abnormality of chromosome stability, Lymphoma, Leukemia, Squamous cell carcinoma, Chromosome brea... OMIM:210900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased mean corpuscu... ORPHA:300298
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Hyp... ORPHA:848
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia OMIM:610090
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage, Anemia OMIM:614083
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, H... ORPHA:231222
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular v... ORPHA:261250
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy, Hypoglycemia ORPHA:67048
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Hepatomegaly OMIM:617872
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Neutropenia, Reticulocytopenia, Pancytopenia... OMIM:600901
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Macrocytic anemia OMIM:612528
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Neutropenia, Reticulocytopenia, Pancytopenia... OMIM:227650
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Ataxia-Telangiectasia
Neoplasm, Lymphopenia, Abnormality of chromosome stability ORPHA:100
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Neutropenia, Reticulocytopenia, Pancytopenia... OMIM:227645
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Lig4 Syndrome
Abnormality of chromosome stability, Leukocytosis, Lymphoma, Pancytopenia, Acute leukemia ORPHA:99812
Congenital Toxoplasmosis
Thrombocytopenia, Cardiomegaly, Anemia, Hepatomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Anemia, Hypoglycemia OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Anemia, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:618835
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Abnormality of chromosome stability, Anemia ORPHA:2268
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Anemia, Leukopenia OMIM:603467
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Neutropenia, Reticulocytopenia, Pancytopenia... OMIM:227646
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly ORPHA:86843
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, Cardiomegaly, R... OMIM:212140
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Abnormal heart morph... ORPHA:97214
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Steatorrhea, Pancytopenia, Thrombocytopenia, Acute myel... OMIM:260400
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Castleman Disease
Thrombocytopenia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Anemia ORPHA:160
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Hypoglycemia, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dilated cardiomyopathy, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:611126
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Transient hyperlipidemia OMIM:255120
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Lymphoproliferative disorder, Decreased proportion of CD8-positive T cells, Autoim... ORPHA:911
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Glioma, B-cel... ORPHA:647
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Meningioma
Neurofibromas, Intracranial meningioma, Spinal meningioma, Chromosomal breakage induced by ionizi... ORPHA:2495
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Abnormality of chromosome stability, Aplastic anemia OMIM:300514
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:301040
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Neutropenia, Anemia ORPHA:175
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Pulmonic stenosis, Increased hematocrit, Tricuspid stenosis ORPHA:100076
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Neonatal hypoglycemia, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Fanconi Anemia
Myelodysplasia, Abnormality of chromosome stability, Pyridoxine-responsive sideroblastic anemia, ... ORPHA:84
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Hypoketotic hypoglycemia... ORPHA:26793
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:50918

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 Rpa1

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 Rpa1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dual functions for the ssDNA-binding protein RPA in meiotic recombination. PLoS genetics (February 2019) Rpa1tm1c(KOMP)Wtsi Rpa1tm1a(KOMP)Wtsi PMC6375638

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MGI Allele Allele Type Produced
Rpa1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Rpa1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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