Gene Summary

Name:
alcohol dehydrogenase 5 (class III), chi polypeptide
Synonyms:
GSNOR,  S-nitrosoglutathione reductase,  Adh-5,  Adh3

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
abnormal vocalization Adh5tm1b(EUCOMM)Wtsi HOM Early adult 1.93×10-05
decreased spleen weight Adh5tm1b(EUCOMM)Wtsi HOM   Early adult 7.53×10-05

Download data as:  TSV  XLS

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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
Adrenal gland  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 75% (3 of 4)
Stomach  Wholemount images heterozygote 75% (3 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vascular system  Wholemount images heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 75% (3 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 25% (1 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 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.

Echo

M-Mode Images

54 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

Adult LacZ

LacZ Images Wholemount

15 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Adh5 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 Adh5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151

The table below shows human diseases predicted to be associated to Adh5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Vasculitis in t... ORPHA:319552
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ... OMIM:613493
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis media OMIM:613502
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Cerebral vasculitis, Recurrent bacterial infections, Subarachnoid he... OMIM:243700
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent bacterial infections, Recu... OMIM:209920
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, R... OMIM:607594
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Vasculitis, Re... OMIM:610984
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... ORPHA:572
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Analbuminemia
Recurrent lower respiratory tract infections, Hypotension OMIM:616000
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Systolic heart murmur, Transient ischemic attack, Bundle branch bloc... ORPHA:99103
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis, Hypotension ORPHA:99825
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Infant Acute Respiratory Distress Syndrome
Sepsis, Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Sepsis OMIM:612840
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Myocardial infarction, Recurrent Haemophilus influe... ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage, Aortic regurgitation OMIM:603585
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent tonsillitis, Pulmonary tuberculosis, Severe infection, Sepsis, Recurrent urinary tract ... ORPHA:183675
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media,... OMIM:601495
Inhalational Anthrax
Internal hemorrhage, Hypotension, Sepsis ORPHA:247257
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... ORPHA:486
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent bacterial infections, Recurrent opportunistic infections, Recurren... OMIM:613179
Omenn Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:603554
Adult Acute Respiratory Distress Syndrome
Vasculitis, Shock, Hypotension, Sepsis ORPHA:70578
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Immunodeficiency 36
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... OMIM:616005
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Recurrent respiratory infections, Hypotension OMIM:264350
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections OMIM:618048
Vici Syndrome
Recurrent fungal infections, Recurrent bacterial infections, Dilated cardiomyopathy, Chronic muco... OMIM:242840
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... OMIM:606367
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent upper respiratory tract infections, Hypotension, Recurrent sinusitis, Recurrent... ORPHA:293978
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Recurrent ba... ORPHA:331206
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Enteroviral encephalitis, Recur... OMIM:308230
Postinfectious Vasculitis
Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... ORPHA:48435
Immunodeficiency 23
Vasculitis in the skin, Severe varicella zoster infection, Recurrent staphylococcal infections, C... OMIM:615816
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Scrub Typhus
Hypotension, Meningitis, Infectious encephalitis, Myocarditis ORPHA:83317
Meningococcal Meningitis
Shock, Infectious encephalitis, Hypotension, Sepsis ORPHA:33475
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Small vessel vasculitis ORPHA:36412
Perry Syndrome
Hypotension ORPHA:178509
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Legionnaires Disease
Sepsis, Arrhythmia, Hypotension, Myocarditis, Recurrent pharyngitis, Infectious encephalitis, Per... ORPHA:549
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Bacterial Toxic-Shock Syndrome
Severe infection, Sepsis, Tachycardia, Recurrent urinary tract infections, Hypotension, Myocardit... ORPHA:36234
Congenital Enterovirus Infection
Sepsis, Hypotension, Myocarditis, Meningitis, Infectious encephalitis, Cardiomyopathy ORPHA:292
Sickle Cell Anemia
Hypertension, Recurrent bacterial infections OMIM:603903
Staphylococcal Necrotizing Pneumonia
Severe infection, Shock, Hypotension, Sepsis ORPHA:36238
Pgm3-Cdg
Recurrent fungal infections, Vasculitis in the skin, Sepsis, Recurrent bacterial infections, Recu... ORPHA:443811
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Mitral regurgitation, Sepsis, Recurrent urinary tract infections, Recurrent ba... OMIM:612541
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Hypotension, Bradycardia ORPHA:391673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive ... OMIM:615895
Mirage Syndrome
Recurrent bacterial infections, Intracranial hemorrhage, Recurrent urinary tract infections, Sepsis OMIM:617053
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... ORPHA:100080
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... ORPHA:221139
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis m... OMIM:608233
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100082
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension OMIM:263400
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension ORPHA:99828
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Recurrent bacterial infections ORPHA:2176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutaneous candidiasis, R... OMIM:102700
Whipple Disease
Hypotension, Myocarditis, Myocardial infarction, Infectious encephalitis, Gastrointestinal hemorr... ORPHA:3452
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Chromomycosis
Recurrent bacterial infections ORPHA:182
Ch├ędiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent bacterial infections, Recurrent streptococcal infe... ORPHA:167
Sepsis In Premature Infants
Severe infection, Tachycardia, Disseminated viral infection, Hypotension, Meningitis, Neonatal se... ORPHA:90051
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Sepsis, Recurrent viral infections, Recurrent bacterial infections, ... OMIM:619573
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... ORPHA:97287
Familial Glucocorticoid Deficiency
Recurrent infections, Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Hypotension ORPHA:361
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:188
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Recurrent systemic pyogenic infections, Recurrent bacterial ski... OMIM:214500
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Glycogen Storage Disease Ib
Hypertension, Recurrent bacterial infections OMIM:232220
Poliomyelitis
Hypovolemic shock, Hypotension, Meningitis, Infectious encephalitis, Hypertension ORPHA:2912
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Aa Amyloidosis
Hypotension ORPHA:85445
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Immunodeficiency 47
Recurrent infections, Recurrent bacterial infections, Tricuspid regurgitation OMIM:300972
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Neuroleptic Malignant Syndrome
Sepsis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertensi... ORPHA:94093
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Severe infection, Palpitations, Tachycardia, Intracranial hemorrhage, Hypote... ORPHA:340
Congenital Hypothyroidism
Hypertension, Arrhythmia, Hypotension ORPHA:442
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure ORPHA:31824
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... ORPHA:31826
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Severe viral infection, Shock, Subconjunctival hemorrhage, Bradycardia ORPHA:319213
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Recurrent acute respiratory tract infection, Hypotension, M... ORPHA:95409
Mastocytosis
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension ORPHA:98292
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Sepsis, Hypotension ORPHA:199299
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent tonsillitis, Sepsis, Recurrent u... ORPHA:2968
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Recurrent bacterial infections, Epistaxis ORPHA:79259
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Hypotension ORPHA:2135
Alexander Disease
Hypertension, Sudden cardiac death, Infectious encephalitis, Hypotension ORPHA:58
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... ORPHA:99827
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Recurrent bacterial infections ORPHA:811
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Gitelman Syndrome
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension OMIM:263800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... ORPHA:699
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Marburg Hemorrhagic Fever
Hypovolemia, Severe infection, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjuncti... ORPHA:99826
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Hellp Syndrome
Internal hemorrhage, Cerebral hemorrhage, Hypotension ORPHA:244242
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Meningitis, Subconjunctival he... ORPHA:509
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Prolactinoma
Hypotension ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... ORPHA:466650
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur ORPHA:100079
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... ORPHA:358
Plague
Hematemesis, Sepsis, Tachycardia, Arrhythmia, Hypotension, Meningitis ORPHA:707
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Lysosomal Acid Lipase Deficiency
Hypovolemia, Pulmonary arterial hypertension, Hypotension ORPHA:275761
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Hepatocellular Carcinoma
Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension ORPHA:88673
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Acute Liver Failure
Intracranial hemorrhage, Gastrointestinal hemorrhage, Shock, Hypotension ORPHA:90062
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Recurrent Staphylococcus aureus infections,... ORPHA:642
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Shock, Hypotension ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151

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 Adh5

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 Adh5.

No publications found that use IMPC mice or data for Adh5.

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MGI Allele Allele Type Produced
Adh5tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adh5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Adh5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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