Gene Summary

Name:
phospholipase D1
Synonyms:
Pld1b,  Pld1a

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.

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

Human diseases caused by Pld1 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 Pld1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Valvular Defect, Developmental
OMIM:212093

The table below shows human diseases predicted to be associated to Pld1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:605249
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:155100
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Prolonged bleeding time, Giant plate... ORPHA:182050
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Prolonged bleeding time, Abnormal alpha g... OMIM:601399
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets, Thrombocytopenia ORPHA:238459
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:153640
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Reduced natural killer cell activity, Impa... OMIM:619374
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Acute myelomonocytic leukemia, Abnormal platelet function ORPHA:2585
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614075
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Hepatospleno... OMIM:607330
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Panhypoga... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Wiskott-Aldrich Syndrome
Abnormal platelet function, Acute leukemia, Chronic leukemia, Abnormal platelet morphology, Neopl... ORPHA:906
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion ORPHA:324636
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormality of neutrophil physiology, Abnormal platelet... ORPHA:167
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Bone marrow hypocellularity, Acute myeloid leukemia, ... ORPHA:2968
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Noonan Syndrome
Abnormal platelet function ORPHA:648
Cardiac Valvular Defect, Developmental
OMIM:212093

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 Pld1

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 Pld1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Biased M1 receptor-positive allosteric modulators reveal role of phospholipase D in M1-dependent rodent cortical plasticity. Science signaling (December 2019) Pld1tm1a(KOMP)Wtsi 31796631

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MGI Allele Allele Type Produced
Pld1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pld1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Pld1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pld1tm47048(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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