Gene Summary

Name:
AU RNA binding protein/enoyl-coenzyme A hydratase
Synonyms:
W91705

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Auhem1(IMPC)Tcp HOM Early adult 2.01×10-07
increased circulating alanine transaminase level Auhem1(IMPC)Tcp HOM Early adult 2.51×10-06
abnormal sternum morphology Auhem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

42 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Methylglutaconic Aciduria, Type I
OMIM:250950
3-Methylglutaconic Aciduria Type 1
ORPHA:67046

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Halothane Hepatitis
Eosinophilia OMIM:234350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Delayed proximal femoral epiphys... ORPHA:353298
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Wells Syndrome
Eosinophilia ORPHA:901
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Hip dislocation, Eosinophilia, Clubbing OMIM:618523
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Roifman Syndrome
Short toe, Clinodactyly of the 5th finger, Splenomegaly, Eosinophilia, Brachydactyly, Irregular f... OMIM:616651
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp... OMIM:617425
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Omenn Syndrome
Short toe, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Abnormal met... ORPHA:39041
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Hypereosinoph... OMIM:617388
Aspergillosis
Abnormal rib morphology, Eosinophilia, Abnormal long bone morphology, Neutropenia ORPHA:1163
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... OMIM:274000
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Anterio... OMIM:102700
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... ORPHA:443811
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Broad metacarpals, Lymphopenia, Broad ischia, Narrow greater sciatic notch, Aplasia/hypoplasia in... ORPHA:508533
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Netherton Syndrome
Hypereosinophilia OMIM:256500
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Scleroderma
Elevated circulating creatine kinase concentration, Osteolytic defects of the phalanges of the ha... ORPHA:801
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-pos... ORPHA:3261
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Incontinentia Pigmenti
Absent hand, Camptodactyly of finger, Eosinophilia, Deviation of finger, Supernumerary ribs, Fing... ORPHA:464
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Eosinophilia, Abnormal pelvis bone morphology, Ane... ORPHA:284
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Swelling of proximal inter... ORPHA:3260
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Sternum, Premature Obliteration Of Sutures Of
Short sternum OMIM:184800
Incontinentia Pigmenti
Supernumerary ribs, Eosinophilia, Leukocytosis OMIM:308300
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Abnormal long bone morphology, Abnormal metacar... ORPHA:228123
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:449395
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... ORPHA:797
Craniorachischisis
Bifid sternum ORPHA:63260
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Viss Syndrome
Arachnodactyly, Hip dysplasia, Genu valgum, Hypereosinophilia, Contracture of the proximal interp... OMIM:619472
Cushing Disease
Lymphopenia, Decreased eosinophil count, Leukocytosis ORPHA:96253
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Hyperextensibility of the finger joints, Tapered finger, Bifid ster... OMIM:303600
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Decreased eosinophil count, Leukocytosis ORPHA:99889
3-Methylglutaconic Aciduria Type 1
ORPHA:67046
3-Methylglutaconic Aciduria, Type I
OMIM:250950

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 Auh

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 Auh.

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

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MGI Allele Allele Type Produced
Auhem1(IMPC)Tcp Inter-exon deletion Mice
Auhtm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Auhtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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