Gene Summary

Name:
PDZ and LIM domain 1 (elfin)
Synonyms:
CLP36,  mClim1

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

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.

Legacy Phenotype Associated Images

Human diseases caused by Pdlim1 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 Pdlim1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time OMIM:185050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Prolonged bleeding time ORPHA:238459
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Myh9-Related Disease
Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie... ORPHA:182050
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib OMIM:603585
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Von Willebrand Disease
Microcytic anemia, Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia ORPHA:903
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Blue Rubber Bleb Nevus
Microcytic anemia, Prolonged bleeding time ORPHA:1059
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... ORPHA:906
Hermansky-Pudlak Syndrome 6
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:614075
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level, Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, In... ORPHA:84064
Ch├ędiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired lymphocyte transf... ORPHA:79329
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function, Juvenile myelomonocytic leukemia ORPHA:648
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... ORPHA:2968
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200

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 Pdlim1

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 Pdlim1.

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) Pdlim1em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pdlim1em1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Pdlim1em1(IMPC)Wtsi Deletion Mice

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