banner
Genes Phenotypes Help, News, Blog

Gene: H4c16 MGI:2448443

Log in to follow

Gene Summary

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

Order Alleles

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
enlarged kidney H4c16em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular hemoglobin H4c16em1(IMPC)Mbp HOM Early adult 1.53×10-06
abnormal kidney morphology H4c16em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

X-ray

XRay Images Whole Body Dorso Ventral

55 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images

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
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ne... OMIM:617303
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membranoprolifera... ORPHA:251004
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Asplenia OMIM:615415
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Beta-Thalassemia
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple r... ORPHA:464329
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Ureteral atresia, Splenomeg... OMIM:208540
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl... OMIM:276700
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Micropenis, Macrocytic anemia, Neutropenia OMIM:620501
H Syndrome
Abnormality of the kidney, Enlarged kidney, Histiocytosis, Hepatosplenomegaly, Micropenis, Microc... ORPHA:168569
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Leukopenia, Thrombo... ORPHA:505248
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Cystic renal dysplasia OMIM:200995
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Anemia, Tubulointerstitial fibrosis, Chronic neutropenia, Nephroli... ORPHA:79259
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Beta-Thalassemia Intermedia
Hepatomegaly, Proximal tubulopathy, Anemia of inadequate production, Leukocytosis, Persistence of... ORPHA:231222
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... ORPHA:79328
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Hypospadias ORPHA:98791
Ogden Syndrome
Enlarged kidney, Iron deficiency anemia, Polycystic kidney dysplasia, Global glomerulosclerosis, ... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Asplenia, Renal agenesis, Cardiomegaly, Horseshoe kidney, Polysplenia OMIM:306955
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Nephroca... OMIM:260400
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney OMIM:615873
Beta-Thalassemia Major
Anisopoikilocytosis, Hepatomegaly, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... ORPHA:124
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Micropenis OMIM:618280
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... ORPHA:99867
Lead Poisoning
Abnormal T cell morphology, Anemia, Chronic kidney disease, Imbalanced hemoglobin synthesis, Tubu... ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Hydro... ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, R... OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... 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
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Proteus Syndrome
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly, Thymus hyperp... ORPHA:744
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alkaptonuria
Nephrolithiasis, Dark urine, Elevated urinary homogentisic acid, Aminoaciduria, Hemolytic anemia,... ORPHA:56
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter