Gene Summary

Name:
polymerase (DNA-directed), delta 4
Synonyms:
2410012M21Rik,  DNA polymerase delta smallest subunit p12,  p12

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
decreased circulating calcium level Pold4em1(IMPC)J HOM Early adult 2.67×10-08
decreased leukocyte cell number Pold4em1(IMPC)J HOM Early adult 4.02×10-07
decreased circulating glucose level Pold4em1(IMPC)J HOM   Early adult 7.04×10-05

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.

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Pold4 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 Pold4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Diabete... OMIM:612526
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Albers-Sch├Ânberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia ORPHA:173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoketotic hy... ORPHA:26793
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hypercalcemia OMIM:618440
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:614736
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Hypocalcemia, Iron deficiency anemia, Macrocytic anemia, Type I diabetes mellitus OMIM:212750
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia OMIM:228100
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia OMIM:617872
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Pearson Syndrome
Glycosuria, Pancytopenia, Hypokalemia, Hypoplastic spleen, Hypocalcemia, Splenomegaly, Neutropeni... ORPHA:699
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Insulin resistance, Hypocalcemia, Iron deficiency anemia, Glu... ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Diabetes mellitus, Thro... ORPHA:544482
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... ORPHA:2785
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Hypoglycemia OMIM:618838
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macroc... ORPHA:199299
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Hypocalcemia ORPHA:175
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:163979
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Mastocytosis
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Acute leukemia ORPHA:98292
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Polycythemia, Hypercalcemia, Thrombocytosis, Anemia, Hyp... ORPHA:88673
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hypertriglyceridemia OMIM:613027
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia... ORPHA:466650
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:95409
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Hypoc... ORPHA:83471
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Diabetes mellitus ORPHA:280651
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia ORPHA:251004
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hypouricemia, Diabetes mellitus, Hypophosphatemia OMIM:616026
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Addison Disease
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:85138
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia, Splenomegaly ORPHA:567
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Vipoma
Normochromic anemia, Hypokalemia, Diabetes mellitus, Hypercalcemia ORPHA:97282
Fibrous Dysplasia Of Bone
Hypophosphatemia, Diabetes mellitus, Hypercalcemia ORPHA:249
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Digeorge Syndrome
Hypocalcemia, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia, Hepatosplenomegaly, Hemolytic anemia OMIM:619503
Glucagonoma
Normochromic anemia, Acanthocytosis, Diabetes mellitus, Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypercalcemia ORPHA:276152
Pheochromocytoma
Hypercalcemia OMIM:171300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Diabetes mellitus OMIM:243800
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia ORPHA:913
Hypophosphatemic Rickets
Periapical tooth abscess, Tooth abscess, Hypophosphatemia, Hypercalcemia ORPHA:437
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Splenomegaly OMIM:612301
Ppoma
Hypercalcemia ORPHA:97278
Grfoma
Hypercalcemia ORPHA:97261
Sarcoidosis
Eosinophilia, Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Hemolytic anemia, Thromb... ORPHA:797
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Typ... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams-Beuren Syndrome
Glucose intolerance, Diabetes mellitus, Hypercalcemia OMIM:194050
Sotos Syndrome
Neonatal hypoglycemia, Hypercalcemia, Acute lymphoblastic leukemia ORPHA:821

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 Pold4

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 Pold4.

No publications found that use IMPC mice or data for Pold4.

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MGI Allele Allele Type Produced
Pold4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pold4em1(IMPC)J Exon Deletion Mice
Pold4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pold4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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