Gene Summary

Name:
ring finger protein 123
Synonyms:
KPC1

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 mean corpuscular hemoglobin Rnf123em1(IMPC)J HOM Early adult 6.63×10-10
hyperactivity Rnf123em1(IMPC)J HOM Early adult 3.47×10-05
improved glucose tolerance Rnf123em1(IMPC)J HOM Early adult 1.72×10-05
increased hemoglobin content Rnf123em1(IMPC)J HOM   Early adult 1.74×10-05
increased mean corpuscular hemoglobin concentration Rnf123em1(IMPC)J HOM Early adult 1.50×10-24
decreased mean corpuscular volume Rnf123em1(IMPC)J HOM Early adult 2.27×10-11
increased fasting circulating glucose level Rnf123em1(IMPC)J HOM Early adult 4.52×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Rnf123 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 Rnf123 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Schizophrenia 15
Hyperactivity OMIM:613950
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Recurrent otitis ... OMIM:619774
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hemochromatosis, Type 4
Anemia, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:606069
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Macrocytic anemia, Neutropenia, Recurr... OMIM:612562
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Shwachman-Diamond Syndrome
Normocytic anemia, Recurrent viral infections, Aplastic anemia, Sepsis, Leukemia, Increased mean ... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F OMIM:619769
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dysphagia, Thrombocytopenia ORPHA:261250
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decreased pr... ORPHA:760
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Attention deficit hyperactivity diso... ORPHA:330015
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Pancreatic And Cerebellar Agenesis
Anemia, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
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
Argininemia
Reduced erythrocyte arginase activity, Hyperactivity, Anorexia OMIM:207800
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
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 Rnf123

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 Rnf123.

No publications found that use IMPC mice or data for Rnf123.

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MGI Allele Allele Type Produced
Rnf123tm376734(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnf123em1(IMPC)J Exon Deletion Mice

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