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Gene: Atg4a MGI:2147903

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Gene Summary

Name:
autophagy related 4A, cysteine peptidase
Synonyms:
autophagin 2,  Autl2,  Apg4a

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 basophil cell number Atg4aem2(IMPC)Marc HOM Early adult 1.11×10-22
increased eosinophil cell number Atg4aem2(IMPC)Marc HOM Early adult 1.97×10-15
decreased bone mineral content Atg4aem2(IMPC)Marc HOM Early adult 1.80×10-08
increased total body fat amount Atg4aem2(IMPC)Marc HOM Early adult 3.23×10-08
decreased lean body mass Atg4aem2(IMPC)Marc HOM Early adult 2.84×10-07
decreased bone mineral density Atg4aem2(IMPC)Marc HOM Early adult 6.12×10-05

Download data as:  TSV  XLS

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.

Phenotype associated images not available

Human diseases caused by Atg4a 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 Atg4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Cellulitis ORPHA:3165
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobility, Cutaneous a... OMIM:147060
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia OMIM:613412
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Eosinophilia, Craniosynostosis OMIM:618523
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... ORPHA:486
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Eosinophilia OMIM:253600
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Arthritis, Anemia OMIM:607115
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive OMIM:615387
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Roifman Syndrome
Hip contracture, Delayed proximal femoral epiphyseal ossification, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... OMIM:304790
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hyperflexib... ORPHA:2314
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Roifman Syndrome
Splenomegaly, Hip contracture, Eosinophilia OMIM:616651
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Cutaneous abscess, Joint hypermobility, Sterile abscess OMIM:618282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased ... ORPHA:169160
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Weight loss ORPHA:2070
Omenn Syndrome
Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... OMIM:602450
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss ORPHA:2902
Cystic Echinococcosis
Eosinophilia, Abscess, Bone cyst, Weight loss, Splenic cyst, Peritoneal abscess ORPHA:400
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Neutropenia, Lymphopenia, Joint hyper... OMIM:615816
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia OMIM:617388
Aspergillosis
Osteomyelitis, Eosinophilia, Neutropenia ORPHA:1163
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia OMIM:617425
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Generalized bone demineralization, Weight los... ORPHA:199299
Netherton Syndrome
Failure to thrive, Hypereosinophilia OMIM:256500
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu... OMIM:102700
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... ORPHA:2686
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Bone cyst, Weight loss, Abnormal spleen morphology, Anemia, Cutaneou... ORPHA:284
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Eosinophilic Granulomatosis With Polyangiitis
Arthritis, Eosinophilia, Weight loss ORPHA:183
Angiostrongyliasis
Stiff neck, Hypereosinophilia ORPHA:74
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Elbow fle... ORPHA:508533
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... ORPHA:3260
Incontinentia Pigmenti
Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Osteolysis, Umbilical h... ORPHA:464
Coccidioidomycosis
Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical scarring of... ORPHA:228123
Incontinentia Pigmenti
Leukocytosis, Scarring, Eosinophilia OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Fused cervical vertebrae, Carpa... OMIM:274000
Lymphatic Filariasis
Knee osteoarthritis, Hypereosinophilia ORPHA:2035
Sarcoidosis
Hemolytic anemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count, Bone cyst, We... ORPHA:797
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Cushing Disease
Dorsocervical fat pad, Leukocytosis, Osteoporosis, Increased body weight, Truncal obesity, Abdomi... ORPHA:96253
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Igg4-Related Kidney Disease
Eosinophilia, Weight loss ORPHA:449395
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh... ORPHA:171
Viss Syndrome
Joint laxity, Inguinal hernia, Generalized joint laxity, Hypereosinophilia, Umbilical hernia, Fai... OMIM:619472
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia ORPHA:75565
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Leukocytosis, Osteoporosis, Increased body weight, Weight loss, Truncal ob... ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology, Weight loss, Arthritis, Cellulitis, Chondrocalcinosis ORPHA:221

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 Atg4a

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 Atg4a.

No publications found that use IMPC mice or data for Atg4a.

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MGI Allele Allele Type Produced
Atg4aem2(IMPC)Marc Deletion Mice

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