Gene Summary

aldehyde dehydrogenase family 3, subfamily A2
Ahd-3r,  Ahd-3,  Ahd3-r,  Ahd3,  Aldh4,  Aldh4-r,  FALDH

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 3.77×10-29
decreased circulating serum albumin level Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 1.02×10-07
hypoactivity Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 3.32×10-05
abnormal behavior Aldh3a2tm1a(EUCOMM)Wtsi HOM   Early adult 1.81×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aldh3a2 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 Aldh3a2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Sjögren-Larsson Syndrome
Hyperkeratosis ORPHA:816
Sjogren-Larsson Syndrome

The table below shows human diseases predicted to be associated to Aldh3a2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Ataxia, Hypoalb... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Ataxia,... ORPHA:64753
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Pemphigus Erythematosus
Pruritus, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Palmoplantar keratoderma, Erythroderma, Hypernatremia, Recurrent skin infections, P... OMIM:615508
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Acute hyperammonemia, Hypertriglyceridem... ORPHA:247585
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Pemphigus Foliaceus
Crusting erythematous dermatitis, Acantholysis ORPHA:79481
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis ORPHA:555905
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia OMIM:609734
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276556
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276575
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma ORPHA:455
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia OMIM:614962
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:324575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Huntington Disease
Choking episodes, Polyphagia, Abnormal circulating cholesterol concentration, Oral-pharyngeal dys... ORPHA:399
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Hypoalbuminemia ORPHA:507
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Pick Disease Of Brain
Polyphagia OMIM:172700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Polyphagia ORPHA:276580
Gait ataxia, Hypotriglyceridemia, Hyperbilirubinemia, Ataxia, Hypocholesterolemia, Decreased LDL ... ORPHA:14
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Frontotemporal Dementia
Polyphagia OMIM:600274
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Ataxia, Hypocholesterolemia OMIM:212065
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Hyperactivity OMIM:235510
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia OMIM:614963
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Cebalid Syndrome
Polyphagia OMIM:618774
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Temple Syndrome
Polyphagia ORPHA:254516
Toxic Epidermal Necrolysis
Elevated hepatic transaminase, Acantholysis, Dysphagia, Acute hepatic failure, Polydipsia ORPHA:537
Graves Disease, Susceptibility To, 1
Polyphagia OMIM:275000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia, Ataxia OMIM:251300
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Secondary Short Bowel Syndrome
Low plasma citrulline, Steatorrhea, Polyphagia, Abnormal blood ion concentration ORPHA:95427
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Polyphagia ORPHA:397941
Stevens-Johnson Syndrome
Dysphagia, Acute hepatic failure, Elevated hepatic transaminase, Acantholysis ORPHA:36426
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Adult-Onset Still Disease
Skin rash, Pruritus, Elevated hepatic transaminase, Abnormal circulating lipid concentration, Hep... ORPHA:829
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Jaundice, Polydipsia, Polyphagia ORPHA:525731
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration OMIM:615980
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration ORPHA:225
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration OMIM:608709
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concen... ORPHA:2298
Trisomy 18P
Polyphagia ORPHA:1715
Naxos Disease
Palmoplantar keratoderma, Acantholysis OMIM:601214
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Polyphagia ORPHA:251004
Polyphagia ORPHA:97279
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Hyperlipoproteinemia, Abnormal circulating lipid concentration, Palmoplantar keratoderma ORPHA:1979
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Oculogyric crisis, Torticollis, Exaggerated startle respons... OMIM:608643
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Acne ORPHA:3191
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mental Retardation, Autosomal Dominant 1
Polyphagia OMIM:156200
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Polyphagia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Angelman Syndrome
Dysphagia, Polyphagia ORPHA:72
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Increased serum beta-hexosaminidase, Laryn... ORPHA:845
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Elevated hepatic transaminase, Acantholysis, Oral-pharyngeal dysphagia, Inflammatory a... ORPHA:95455
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Polyphagia ORPHA:251937
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398079
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Prader-Willi Syndrome
Erysipelas, Polyphagia ORPHA:739
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Polyphagia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hypertriglyceridemia, Polyphagia OMIM:608594
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398069
Griscelli Syndrome
Jaundice, Hepatitis, Abnormal circulating lipid concentration ORPHA:381
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hypertriglyceridemia, Polyphagia OMIM:269700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polyphagia, Hyponatremia, Polydipsia, Hyperlipidemia ORPHA:293987
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Bulimia ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Bulimia ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Bulimia ORPHA:177904
7Q11.23 Microduplication Syndrome
Polyphagia ORPHA:96121
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Bulimia ORPHA:177901
Prader-Willi Syndrome
Polyphagia OMIM:176270
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Prader-Willi-Like Syndrome
Polyphagia, Bulimia ORPHA:398073
Stiff Skin Syndrome
Abnormal circulating lipid concentration ORPHA:2833
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Adnp Syndrome
Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Livedoid Vasculopathy
Recurrent skin infections, Abnormal circulating lipid concentration, Hyperhomocystinemia, Superfi... ORPHA:542643
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Polyphagia ORPHA:54595
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
1P36 Deletion Syndrome
Dysphagia, Polyphagia ORPHA:1606
Tbck-Related Intellectual Disability Syndrome
Eczema, Abnormal circulating lipid concentration ORPHA:488632
Sjögren-Larsson Syndrome
Hyperkeratosis ORPHA:816
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration OMIM:616541
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Fabry Disease
Hyperkeratosis, Abnormal circulating lipid concentration, Hyperlipidemia ORPHA:324
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Hypoalbuminemia, Ataxia, Reduced thyroxin-binding globulin ORPHA:79318
Niemann-Pick Disease Type B
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased liver function, Hepatic... ORPHA:77293
Chromosome 1P36 Deletion Syndrome
Dysphagia, Polyphagia OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Decreased serum iron, Exaggerated startle response, Broad-based gait ORPHA:438213
Alström Syndrome
Polyphagia, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatitis, Hepatic failure, Port... ORPHA:64
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
Sjogren-Larsson Syndrome


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 Aldh3a2

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 Aldh3a2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Aldehyde dehydrogenase 3a2 protects AML cells from oxidative death and the synthetic lethality of ferroptosis inducers. Blood (September 2020) Aldh3a2tm1c(EUCOMM)Wtsi Aldh3a2tm1a(EUCOMM)Wtsi 32458004
Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery. The Journal of biological chemistry (April 2016) Aldh3a2tm1a(EUCOMM)Wtsi Aldh3a2tm1b(EUCOMM)Wtsi PMC4882436

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MGI Allele Allele Type Produced
Aldh3a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aldh3a2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aldh3a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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