Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
calpain 1
Synonyms:
Capa-1,  mu-calpin,  Capa1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Capn1 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 Capn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 76
ORPHA:488594
Spastic Paraplegia 76, Autosomal Recessive
OMIM:616907

The table below shows human diseases predicted to be associated to Capn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
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
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Platelet aniso... OMIM:619271
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... OMIM:173470
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Prolonged bleeding time, Abnormal alpha granule content, Thromboc... OMIM:601399
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Reduced natural killer cell activity, Impaired neu... OMIM:619374
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614075
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Sebastian syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:605249
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation OMIM:300835
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation OMIM:210250
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time OMIM:188025
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:155100
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets ORPHA:238459
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Enlarged platelet dense granules, Absent platelet dense gra... OMIM:608233
Thrombocytopenia With Beta-Thalassemia, X-Linked
Thrombocytopenia, Prolonged bleeding time OMIM:314050
Fechtner syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:153640
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation ORPHA:79329
Blue Rubber Bleb Nevus
Prolonged bleeding time ORPHA:1059
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Myh9-Related Disease
Prolonged bleeding time, Giant platelets, Increased mean platelet volume, Congenital thrombocytop... ORPHA:182050
Essential Thrombocythemia
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes ORPHA:3318
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion ORPHA:324636
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Prolonged bleeding time OMIM:187900
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Prolonged bleeding time OMIM:614074
Hemophilia B
Prolonged bleeding time ORPHA:98879
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormality of neutrophil physiology, Abnormal platelet... ORPHA:167
Wiskott-Aldrich Syndrome
Thrombocytopenia, Prolonged bleeding time, Abnormal platelet morphology, Abnormal platelet function ORPHA:906
Noonan Syndrome
Abnormal platelet function ORPHA:648
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Deafness-Lymphedema-Leukemia Syndrome
Thrombocytopenia, Prolonged bleeding time, Bone marrow hypocellularity ORPHA:3226
Leukocyte Adhesion Deficiency
Thrombocytosis, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutr... ORPHA:2968
Dentinogenesis Imperfecta
Prolonged bleeding time ORPHA:49042
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Decreased mean platelet volume, Abnormal delayed hypersensitivit... OMIM:600903
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time OMIM:203300
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased mean platelet volume, Abnormal delayed hypersensitivit... OMIM:301000
Autosomal Recessive Spastic Paraplegia Type 76
ORPHA:488594
Spastic Paraplegia 76, Autosomal Recessive
OMIM:616907

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 Capn1

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 Capn1.

There are 5 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) Capn11tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Capn11tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Capn11tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Capn11tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Capn11tm1b(EUCOMM)Wtsi PMC5827107

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