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
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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 0.0% (0 of 2)
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 0.0% (0 of 2)
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 0.0% (0 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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.

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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 Dysplasia 1
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
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Prolonged blee... OMIM:314050
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Prolonged bleeding time, Thrombocytopenia, Impaired risto... OMIM:231200
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Myh9-Related Disease
Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie... ORPHA:182050
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Slc35A1-Cdg
Abnormal platelet granules, Giant platelets, Prolonged bleeding time, Thrombocytopenia, Neutropenia ORPHA:238459
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... OMIM:601399
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, 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
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia, Giant platelets OMIM:611209
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Lathosterolosis
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... OMIM:607330
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level OMIM:222470
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Lymphopenia, Thrombocytosis, In... ORPHA:84064
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Wiskott-Aldrich Syndrome
Lymphoma, Abnormal platelet function, Abnormal platelet morphology, Neoplasm, Prolonged bleeding ... ORPHA:906
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocytopenia ORPHA:324636
Ch├ędiak-Higashi Syndrome
Thrombocytopenia, Abnormal platelet function, Increased proportion of CD25+ mast cells, Abnormali... ORPHA:167
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... 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 Dysplasia 1
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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