Gene Summary

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

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

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.

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
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... 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
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:324575
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Beta-Thalassemia
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... ORPHA:848
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Beta-Thalassemia Intermedia
Leukocytosis, Adrenal insufficiency, Hypoparathyroidism, Erythroid hyperplasia, Splenomegaly, Hyp... ORPHA:231222
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Hyperglycemia OMIM:604367
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Galactokinase Deficiency
Hepatosplenomegaly, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance ORPHA:363400
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... OMIM:246200
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic ... ORPHA:514
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Hypochromic microcytic anemia, Splenomegaly, Persisten... ORPHA:231226
Beta-Thalassemia Major
Adrenal insufficiency, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Sp... ORPHA:231214
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Diabetes mellitus, Insulin resistance ORPHA:528
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance ORPHA:2457
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus ORPHA:676
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Hypothyroidism, Hyp... OMIM:203800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Hyperinsulinemia, Insulin resistance OMIM:613327
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Fasting hyperinsu... ORPHA:71212
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Neoplasm of the thyroid gland, ... ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... OMIM:176270
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79086
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonadism, Hyper... ORPHA:3464
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased circulating osteoc... ORPHA:330015
Sickle Cell Anemia
Leukocytosis, Hemolytic anemia, Increased red cell sickling tendency, Splenomegaly OMIM:603903
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Decreased serum leptin, Hyperinsuli... OMIM:608594
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperglycemia OMIM:151660
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Decreased serum leptin, Hyperinsuli... OMIM:269700
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Recurrent infantile hypoglycemi... ORPHA:508
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Atypical Werner Syndrome
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... ORPHA:79474
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Perianal abscess, Acut... ORPHA:2968
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Turner Syndrome
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:881
Monosomy X
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99226
Mosaic Monosomy X
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99413
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Alström Syndrome
Precocious puberty in females, Type II diabetes mellitus, Insulin resistance, Decreased circulati... ORPHA:64
Pmm2-Cdg
Insulin resistance, Hypogonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormo... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter