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Gene: Prkd1 MGI:99879

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Gene Summary

Name:
protein kinase D1
Synonyms:
Pkcm,  PKD1,  Prkcm

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
increased mean corpuscular hemoglobin concentration Prkd1em2(IMPC)Wtsi HET Early adult 1.80×10-06
increased leukocyte cell number Prkd1em2(IMPC)Wtsi HET Early adult 7.12×10-06
increased circulating insulin level Prkd1em2(IMPC)Wtsi HET Early adult 6.83×10-05
increased mean corpuscular hemoglobin Prkd1em2(IMPC)Wtsi HET Early adult 1.25×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Prkd1 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 Prkd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Defects And Ectodermal Dysplasia
OMIM:617364

The table below shows human diseases predicted to be associated to Prkd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
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
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Pyknoachondrogenesis
Stillbirth OMIM:265880
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevated circulating follicle stimu... OMIM:620501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadism, Thrombocytop... ORPHA:848
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... ORPHA:2298
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... OMIM:250790
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... ORPHA:231222
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:263455
Galactokinase Deficiency
Hepatosplenomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia ORPHA:79237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Leukocytosis, Lymphocytosis... ORPHA:514
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia OMIM:612840
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Precocious puberty in females, Diabetes mellitus ORPHA:528
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Atelis Syndrome 2
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... OMIM:620185
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia, Elevated vascular endot... ORPHA:457077
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus ORPHA:676
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... ORPHA:71212
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly OMIM:613327
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A1c, Insulin-resis... OMIM:269700
Anal Fistula
Leukocytosis ORPHA:228113
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Leukemia, Pure r... ORPHA:99867
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased circulating osteocalcin level, Delayed puberty, Abnorm... ORPHA:330015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Diabetes mellitus, Insulin-resistant diab... OMIM:608594
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,... ORPHA:2968
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99228
Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99226
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Abnorma... OMIM:619991
Alkaptonuria
Methemoglobinemia, Hypothyroidism, Hemolytic anemia ORPHA:56
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... ORPHA:79318
Congenital Heart Defects And Ectodermal Dysplasia
OMIM:617364

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 Prkd1

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 Prkd1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart. Journal of anatomy (February 2024) Prkd1em1(IMPC)Wtsi 38419169
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Prkd1em1(IMPC)Wtsi Prkd1em2(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Prkd1em1(IMPC)Wtsi PMC6671969

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
Prkd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prkd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prkd1em2(IMPC)Wtsi Point Mutation Mice
Prkd1em1(IMPC)Wtsi Deletion Mice

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