Gene Summary

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

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
decreased prepulse inhibition Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 7.56×10-06
decreased locomotor activity Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 3.32×10-05
increased startle reflex Aldh3a2tm1a(EUCOMM)Wtsi HOM Early adult 3.77×10-29
abnormal behavior Aldh3a2tm1a(EUCOMM)Wtsi HOM   Early adult 1.81×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Hypernatremia, Acantholysis, Erythroderma, Palmoplanta... OMIM:615508
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Darier-White Disease
Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Pemphigus Foliaceus
Pustule, Acantholysis, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform der... ORPHA:79481
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin ORPHA:555905
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Polyphagia, Hyperlipidemia OMIM:617885
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hyperbilirubinemia OMIM:609734
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276556
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:276575
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior OMIM:614962
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Polyphagia, Decreased circulating free fatty acid level ORPHA:324575
Huntington Disease
Polyphagia, Abnormal circulating cholesterol concentration, Choking episodes, Oral-pharyngeal dys... ORPHA:399
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Pick Disease Of Brain
Polyphagia OMIM:172700
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Polyphagia ORPHA:276580
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Palmoplantar hyperkeratosis OMIM:607655
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Frontotemporal Dementia
Polyphagia OMIM:600274
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia OMIM:616521
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
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Leptin Receptor Deficiency
Polyphagia, Abnormal eating behavior OMIM:614963
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Temple Syndrome
Polyphagia ORPHA:254516
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Hyperkeratosis, Palm... OMIM:601214
Warty Dyskeratoma
Acantholysis ORPHA:69745
Cebalid Syndrome
Polyphagia OMIM:618774
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alkaline phosphatase concentration, Hypermethioninemia, Abnormal circulating... ORPHA:247598
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Toxic Epidermal Necrolysis
Polydipsia, Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Dysphagia ORPHA:537
Secondary Short Bowel Syndrome
Abnormal blood ion concentration, Low plasma citrulline, Polyphagia, Steatorrhea ORPHA:95427
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Graves Disease, Susceptibility To, 1
Polyphagia OMIM:275000
Stevens-Johnson Syndrome
Dysphagia, Elevated hepatic transaminase, Acantholysis, Acute hepatic failure ORPHA:36426
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Polyphagia ORPHA:397941
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Skin rash, Abnormal circulating lipid conc... ORPHA:829
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Polydipsia, Polyphagia, Jaundice ORPHA:525731
Trisomy 18P
Polyphagia ORPHA:1715
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration OMIM:608709
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Polyphagia ORPHA:97279
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... OMIM:615980
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Hyperlipoproteinemia, Abnormal circulating lipid concentration ORPHA:1979
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Acne ORPHA:3191
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Abnormal circulating li... ORPHA:186
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Angelman Syndrome
Dysphagia, Polyphagia ORPHA:72
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Elevated hepatic transaminase, Acantholysis, Ora... ORPHA:95455
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Prader-Willi Syndrome
Polyphagia, Erysipelas ORPHA:739
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Polyphagia ORPHA:251937
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398079
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Polyphagia OMIM:612469
Overlap Myositis
Dysphagia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abn... ORPHA:206572
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Bulimia ORPHA:98754
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Bulimia ORPHA:98793
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Bulimia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Bulimia ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398069
Weaver Syndrome
Polyphagia OMIM:277590
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Elevated hepatic transaminase, Polyphagia, Hypertriglyceridemia OMIM:269700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Elevated hepatic transaminase, Polyphagia OMIM:608594
Prader-Willi-Like Syndrome
Polyphagia, Bulimia ORPHA:398073
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Elevated hepatic transaminase, Polyphagia, Hyponatremia ORPHA:293987
Griscelli Syndrome
Hepatitis, Jaundice, Abnormal circulating lipid concentration ORPHA:381
Prader-Willi Syndrome
Polyphagia OMIM:176270
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Xanthelasma, Abnormal circulating lipid concentration ORPHA:425
7Q11.23 Microduplication Syndrome
Polyphagia ORPHA:96121
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Gait disturbance,... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Skin Syndrome
Abnormal circulating lipid concentration ORPHA:2833
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Adnp Syndrome
Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Superficial dermal perivascular inflammatory infiltrate... ORPHA:542643
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Polyphagia ORPHA:54595
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Skin rash, Abnormal circulating lipid concentratio... ORPHA:2298
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
1P36 Deletion Syndrome
Dysphagia, Polyphagia ORPHA:1606
Sjögren-Larsson Syndrome
Hyperkeratosis ORPHA:816
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, Polyphagia OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Fabry Disease
Hyperlipidemia, Hyperkeratosis, Abnormal circulating lipid concentration ORPHA:324
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circu... ORPHA:77293
Alström Syndrome
Hyperlipidemia, Hepatic failure, Elevated gamma-glutamyltransferase level, Elevated hepatic trans... ORPHA:64
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome. Molecular and cellular biology (August 2021) Aldh3a2tm1a(EUCOMM)Wtsi Aldh3a2tm1b(EUCOMM)Wtsi PMC8462457
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
Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2018) Aldh3a2tm1b(EUCOMM)Wtsi 30085884
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
Aldh3a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aldh3a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Aldh3a2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aldh3a2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Aldh3a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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