Gene Summary

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

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 2.17×10-05

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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 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 Hind Leg and Hip

7 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
OMIM:619151

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, 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
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
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 streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... 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 respiratory infections, Recurrent bacterial 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 otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Subarachnoid hemorrhage, Recurrent viral infections, Recurrent sinop... OMIM:243700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Vasculit... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:617475
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent enteroviral infection... OMIM:601495
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Recurrent pneumoni... OMIM:240500
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent fungal infections, Recurrent bacte... ORPHA:2688
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Recurrent... OMIM:607594
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Pulmonary arterial h... ORPHA:99103
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurr... ORPHA:572
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Analbuminemia
Hypotension, Recurrent lower respiratory tract infections OMIM:616000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Chron... ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Encephalitis ORPHA:99825
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Meningitis, Recurrent mycobacterial infe... ORPHA:169090
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Encephalitis, E... OMIM:307200
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Epistaxis, Recurrent bacterial infections OMIM:612840
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Sepsis, Bradycardia ORPHA:70587
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Myocardial infarction, Recurrent lower respiratory t... ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Recurrent bacterial infections OMIM:603585
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Recurrent bact... OMIM:116920
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, R... ORPHA:486
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Inhalational Anthrax
Hypotension, Sepsis, Internal hemorrhage ORPHA:247257
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Sepsis, Shock ORPHA:70578
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Recurrent respiratory infections OMIM:264350
Vici Syndrome
Recurrent fungal infections, Recurrent viral infections, Congestive heart failure, Chronic mucocu... OMIM:242840
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent viral infections, Severe varicel... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent vi... ORPHA:331206
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Recurrent upper respiratory tract infections, Hypotension, Recurrent otitis... ORPHA:293978
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Pulmonic stenosis, Recurrent bacterial infections, Pulmonary arterial hypertension, Mitra... OMIM:612541
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Immunodeficiency 23
Recurrent staphylococcal infections, Recurrent Staphylococcus aureus infections, Persistent EBV v... OMIM:615816
Scrub Typhus
Hypotension, Meningitis, Encephalitis, Myocarditis ORPHA:83317
Hypocomplementemic Urticarial Vasculitis
Meningitis, Small vessel vasculitis, Recurrent bacterial infections ORPHA:36412
Meningococcal Meningitis
Hypotension, Sepsis, Encephalitis, Shock ORPHA:33475
Perry Syndrome
Hypotension ORPHA:178509
Sickle Cell Anemia
Hypertension, Recurrent bacterial infections OMIM:603903
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Sepsis, Recurrent lower respiratory tract infections, Recurrent bacterial infections OMIM:308230
Legionnaires Disease
Arrhythmia, Pericarditis, Hypotension, Encephalitis, Myocarditis, Recurrent pharyngitis, Sepsis ORPHA:549
Congenital Enterovirus Infection
Hypotension, Meningitis, Encephalitis, Myocarditis, Sepsis, Cardiomyopathy ORPHA:292
Bacterial Toxic-Shock Syndrome
Severe viral infection, Hypotension, Recurrent urinary tract infections, Severe varicella zoster ... ORPHA:36234
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Meningitis, Congestive heart failure, Encep... ORPHA:99829
Pgm3-Cdg
Recurrent fungal infections, Vasculitis in the skin, Recurrent viral infections, Recurrent infect... ORPHA:443811
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Mirage Syndrome
Intracranial hemorrhage, Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections OMIM:617053
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Necrotizing Enterocolitis
Hypotension, Neonatal sepsis, Bradycardia, Shock ORPHA:391673
Staphylococcal Necrotizing Pneumonia
Hypotension, Sepsis, Severe infection, Shock ORPHA:36238
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Recurrent abscess formatio... OMIM:608233
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:221139
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage ORPHA:99828
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin ORPHA:2176
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Chromomycosis
Recurrent bacterial infections ORPHA:182
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage OMIM:263400
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Encephalitis, Myoc... ORPHA:3452
Ch├ędiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bacterial skin... ORPHA:167
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Sepsis In Premature Infants
Disseminated viral infection, Hypotension, Neonatal sepsis, Severe infection, Meningitis, Tachyca... ORPHA:90051
Familial Glucocorticoid Deficiency
Hypotension, Recurrent infections, Recurrent urinary tract infections, Hypertrophic cardiomyopathy ORPHA:361
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... ORPHA:97287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:102700
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Recurrent bacterial skin infections, Recurrent infections, Recu... OMIM:214500
Glycogen Storage Disease Ib
Hypertension, Recurrent bacterial infections OMIM:232220
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Whim Syndrome
Recurrent upper respiratory tract infections, Meningitis, Recurrent pneumonia, Sepsis, Recurrent ... ORPHA:51636
Poliomyelitis
Hypotension, Hypertension, Meningitis, Encephalitis, Hypovolemic shock ORPHA:2912
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Aa Amyloidosis
Hypotension ORPHA:85445
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Congenital Hypothyroidism
Hypotension, Arrhythmia, Hypertension ORPHA:442
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Seps... ORPHA:94093
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Gastrointestinal hemorrhage ORPHA:98850
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
Late-Onset Isolated Acth Deficiency
Hypotension, Sepsis, Orthostatic hypotension ORPHA:199299
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Recurrent acute respiratory tract infection, M... ORPHA:95409
Mastocytosis
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent fungal infections, BCGosis, Chronic oral candidiasis, Recurrent ... ORPHA:2968
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Shwachman-Diamond Syndrome
Sepsis, Recurrent viral infections, Recurrent bacterial infections ORPHA:811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Epistaxis, Hypertension, Recurrent bacterial infections ORPHA:79259
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Alexander Disease
Sudden cardiac death, Hypotension, Encephalitis, Hypertension ORPHA:58
Gitelman Syndrome
Hypotension, Palpitations, Prolonged QT interval, Ventricular tachycardia OMIM:263800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Cholera
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest ORPHA:20
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Meningit... ORPHA:509
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Prolactinoma
Hypotension ORPHA:2965
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis ORPHA:100079
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abnormal T-wave, ... ORPHA:466650
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Plague
Arrhythmia, Hematemesis, Hypotension, Meningitis, Tachycardia, Sepsis ORPHA:707
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypotension, Hypovolemia ORPHA:275761
Hepatocellular Carcinoma
Hypotension, Portal hypertension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:642
Acute Liver Failure
Intracranial hemorrhage, Hypotension, Gastrointestinal hemorrhage, Shock ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Hypovolemia, Shock ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200
Amed Syndrome, Digenic
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.

Order Mouse and ES Cells

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

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