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Gene: Adh5 MGI:87929

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Gene Summary

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

Order Alleles

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
abnormal vocalization Adh5tm1b(EUCOMM)Wtsi HOM Early adult 1.93×10-05
decreased spleen weight Adh5tm1b(EUCOMM)Wtsi HOM   Early adult 7.45×10-05
decreased exploration in new environment Adh5tm1b(EUCOMM)Wtsi HOM   Early adult 2.60×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
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)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 33.33% (1 of 3)
Brain N/A homozygote 33.33% (1 of 3)
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 33.33% (1 of 3)
Eye N/A homozygote 33.33% (1 of 3)
Footplate N/A heterozygote 33.33% (1 of 3)
Footplate N/A homozygote 33.33% (1 of 3)
Forebrain N/A heterozygote 33.33% (1 of 3)
Forebrain N/A homozygote 33.33% (1 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote 66.67% (2 of 3)
Handplate N/A heterozygote 33.33% (1 of 3)
Handplate N/A homozygote 33.33% (1 of 3)
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote 66.67% (2 of 3)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 33.33% (1 of 3)
Hindbrain N/A homozygote 33.33% (1 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote 66.67% (2 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 33.33% (1 of 3)
Midbrain N/A homozygote 33.33% (1 of 3)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 33.33% (1 of 3)
Skin N/A heterozygote 33.33% (1 of 3)
Skin N/A homozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 33.33% (1 of 3)
Tail somite N/A homozygote 33.33% (1 of 3)
Tail N/A heterozygote 33.33% (1 of 3)
Tail N/A homozygote 33.33% (1 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

56 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Hind Leg and Hip

7 Images

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Adult LacZ

LacZ Images Wholemount

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View 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
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Attention defi... 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 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis 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 staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... OMIM:613501
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
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
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
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
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Recurrent viral... OMIM:243700
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Complement Factor I Deficiency
Recurrent urinary tract infections, Vasculitis, Recurrent Haemophilus influenzae infections, Recu... OMIM:610984
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... ORPHA:83471
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... OMIM:607594
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... ORPHA:276
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Analbuminemia
Recurrent lower respiratory tract infections, Hypotension OMIM:616000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... ORPHA:572
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis, Hypotension ORPHA:99825
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu... ORPHA:98813
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... OMIM:147060
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Sepsis, Bradycardia, Hypotension ORPHA:70587
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Epistaxis OMIM:612840
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Recurrent bacterial infections, Pulmonary hemorrhage OMIM:603585
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... OMIM:116920
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Inhalational Anthrax
Sepsis, Internal hemorrhage, Hypotension ORPHA:247257
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:601495
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Sepsis, Hypotension ORPHA:70578
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Recurrent viral infections, Recurrent op... OMIM:613179
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Hypotension OMIM:264350
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... OMIM:616005
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... ORPHA:331206
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Perry Syndrome
Hypotension ORPHA:178509
Postinfectious Vasculitis
Cerebral vasculitis, Persistent human papillomavirus infection, Raynaud phenomenon, Severe varice... ORPHA:48435
Meningococcal Meningitis
Shock, Infectious encephalitis, Sepsis, Hypotension ORPHA:33475
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Scrub Typhus
Myocarditis, Meningitis, Infectious encephalitis, Hypotension ORPHA:83317
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Small vessel vasculitis, Meningitis ORPHA:36412
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Sepsis, Hypotension, Arrhythmia, Infectious enc... ORPHA:549
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Recurrent urinary tract infections, Myocarditis, Severe varicella zoster infe... ORPHA:36234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Congenital Enterovirus Infection
Myocarditis, Sepsis, Cardiomyopathy, Hypotension, Meningitis, Infectious encephalitis ORPHA:292
Staphylococcal Necrotizing Pneumonia
Shock, Severe infection, Sepsis, Hypotension ORPHA:36238
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Pgm3-Cdg
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... ORPHA:443811
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Bradycardia, Hypotension ORPHA:391673
Mirage Syndrome
Intracranial hemorrhage, Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyopathy, Recurrent bacteri... OMIM:615895
Sickle Cell Disease
Hypertension, Recurrent bacterial infections OMIM:603903
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... ORPHA:293978
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:221139
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... OMIM:608233
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Congestive heart failure, Dilated c... OMIM:242840
Sepsis In Premature Infants
Neonatal sepsis, Tachycardia, Disseminated viral infection, Severe infection, Bradycardia, Hypote... ORPHA:90051
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Dilated cardiomyopathy, Sepsis, Persistent EBV viremia, Severe cytome... OMIM:619573
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin ORPHA:2176
Chromomycosis
Recurrent bacterial infections ORPHA:182
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension, Infec... ORPHA:3452
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Hypotension, Recurrent infections ORPHA:361
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac... OMIM:102700
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Epistaxis, Recurrent staph... ORPHA:167
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... ORPHA:97287
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Poliomyelitis
Meningitis, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis ORPHA:2912
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Recurrent infections, Recurrent bacterial skin infections, Recu... OMIM:214500
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Glycogen Storage Disease Ib
Hypertension, Recurrent bacterial infections OMIM:232220
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... ORPHA:100075
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Aa Amyloidosis
Hypotension ORPHA:85445
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Sepsis, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hype... ORPHA:94093
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Immunodeficiency 47
Recurrent bacterial infections, Tricuspid regurgitation, Recurrent infections OMIM:300972
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Severe infection, Capillary leak, Intracranial hemorr... ORPHA:340
Lujo Hemorrhagic Fever
Shock, Myocarditis, Severe viral infection, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Sepsis, Hypotension ORPHA:199299
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Hypotension, Recurrent acute respira... ORPHA:95409
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Alexander Disease
Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death ORPHA:58
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Recurrent bacterial infections, Epistaxis ORPHA:79259
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections ORPHA:811
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi... ORPHA:2968
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Severe infection, Hypovolemia, Capillary leak, Subconjunctival ... ORPHA:99826
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Portal hypertension, Spider hemangioma, Congestive heart ... ORPHA:171
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Neuroendocrine Neoplasm Of Appendix
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension ORPHA:100079
Prolactinoma
Hypotension ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypovolemia, Hypotension ORPHA:275761
Plague
Tachycardia, Hematemesis, Sepsis, Hypotension, Arrhythmia, Meningitis ORPHA:707
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Acute Liver Failure
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension ORPHA:90062
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Syncope, Orthostatic hypotension due to autonomic dys... ORPHA:642
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, 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
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Attention defi... 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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