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Gene: H4c16 MGI:2448443

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Gene Summary

Name:
H4 histone 16
Synonyms:
B130044J01Rik,  Hist4h4,  H4-16,  H4f16

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin H4c16em1(IMPC)Mbp HOM Early adult 7.07×10-09
abnormal kidney morphology H4c16em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney H4c16em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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X-ray

XRay Images Whole Body Dorso Ventral

55 Images

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Human diseases caused by H4c16 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 H4c16 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia OMIM:619950

The table below shows human diseases predicted to be associated to H4c16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... OMIM:613673
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... OMIM:617303
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:848
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Neutropenia, Nephrolithiasis, Focal segmental glomerulos... OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter... OMIM:208540
Kaposiform Lymphangiomatosis
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... ORPHA:464329
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... OMIM:276700
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias OMIM:250790
H Syndrome
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Micropenis, Enlarged kidney, Hi... ORPHA:168569
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Nephrolithiasis, Stage 5 chronic kidney disease, ... ORPHA:79259
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Urinary bladder inflammation, Renal interstitial ... ORPHA:449395
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Thrombocyto... ORPHA:731
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... ORPHA:500095
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, H... ORPHA:79328
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia ORPHA:98791
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Iron deficiency anemia, Polycystic kidney dysplasia, Enl... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney OMIM:306955
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persisten... OMIM:260400
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Diamond-Blackfan Anemia
Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia,... ORPHA:124
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... ORPHA:99867
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Abnormal hemo... ORPHA:847
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula... ORPHA:330015
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney OMIM:618280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne... OMIM:312870
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc... OMIM:105650
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia OMIM:619950

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 H4c16

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 H4c16.

No publications found that use IMPC mice or data for H4c16.

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MGI Allele Allele Type Produced
H4c16em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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