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Gene: Aldh18a1 MGI:1888908

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Gene Summary

Name:
aldehyde dehydrogenase 18 family, member A1
Synonyms:
2810433K04Rik,  Pycs

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.

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Viewing: all phenotypes
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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
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.

Legacy Phenotype Associated Images
Aldh18a1tm1a(KOMP)Wtsi
head, WT, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
head, WT, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
head, WT, Female, WTSI

View all 259 images

Aldh18a1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Aldh18a1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Aldh18a1 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 Aldh18a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cutis Laxa, Autosomal Dominant 3
Hernia OMIM:616603
Autosomal Dominant Cutis Laxa
Inguinal hernia, Bronchiectasis, Hernia, Pyelonephritis ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Umbilical hernia, Inguinal hernia OMIM:219150
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 9B
Elbow flexion contracture ORPHA:447757
Autosomal Recessive Spastic Paraplegia Type 9B
ORPHA:447760
Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616586
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664
Autosomal Dominant Spastic Paraplegia Type 9A
ORPHA:447753

The table below shows human diseases predicted to be associated to Aldh18a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Acne Inversa, Familial, 1
Atypical scarring of skin, Acne inversa OMIM:142690
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections, Cellulitis ORPHA:345
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Chilblain Lupus 2
Chilblains OMIM:614415
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... ORPHA:499
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90160
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Pustul... ORPHA:346
Lymphatic Malformation 3
Recurrent skin infections, Cellulitis OMIM:613480
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Pustule ORPHA:222
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90159
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Immunodeficiency 53
Recurrent otitis media, Recurrent pneumonia, Skin rash OMIM:617585
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... ORPHA:90156
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Arthritis, Cellu... ORPHA:231
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Malar rash,... ORPHA:330058
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Nail dystrophy OMIM:618806
Ichthyosis Hystrix Of Curth-Macklin
Flexion contracture, Recurrent skin infections, Nail dystrophy ORPHA:79503
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Atopic dermatitis, Cellulitis, Recurrent otitis media, Cutaneous abscess OMIM:618944
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla... ORPHA:129
Mal De Meleda
Inflammatory abnormality of the skin, Flexion contracture, Superficial dermal perivascular inflam... ORPHA:87503
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis OMIM:603165
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Pruritis on hand, Malar rash ORPHA:90280
Keratolytic Winter Erythema
Pustule ORPHA:50943
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Ulerythema Ophryogenesis
Acne, Contact dermatitis, Sparse lateral eyebrow ORPHA:3406
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Immunodeficiency 50
Eczema OMIM:300988
Elastoderma
Erysipelas, Eczema ORPHA:228240
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Sparse hair, Blephariti... OMIM:618535
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Pili torti, Acne inversa OMIM:301845
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Pellagra-Like Syndrome
Skin rash OMIM:260650
Chilblain Lupus 1
Chilblains OMIM:610448
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... OMIM:612843
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec... OMIM:616576
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Camptodactyly of finger ORPHA:1658
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... ORPHA:2890
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash OMIM:620321
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Conjunctiv... OMIM:308800
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneo... OMIM:147060
Majeed Syndrome
Inflammatory abnormality of the skin, Flexion contracture, Skin rash, Osteomyelitis OMIM:609628
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Acne ORPHA:3000
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scarring ORPHA:90283
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Juvenile Arthritis
Skin rash OMIM:618795
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Bronchiectasis, Recurrent otitis media, Joint contracture of the hand OMIM:618523
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, Acne inversa, Trich... OMIM:617337
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains OMIM:619858
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... ORPHA:324964
Netherton Syndrome
Sparse scalp hair, Brittle hair, Recurrent skin infections, Brittle scalp hair, Eczema, Allergic ... OMIM:256500
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine OMIM:618108
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum OMIM:615214
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... OMIM:614868
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia ORPHA:277
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema OMIM:177000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... OMIM:243700
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculopapular exanthema, Pneumonia, In... ORPHA:39812
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... ORPHA:47
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... ORPHA:678
Cutaneous Collagenous Vasculopathy
Pruritus, Skin rash ORPHA:280779
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy OMIM:614204
Pyoderma Gangrenosum
Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Rheumatoid arthritis ORPHA:48104
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Atrophic scars ORPHA:542592
Neutropenia, Severe Congenital, X-Linked
Eczema OMIM:300299
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... OMIM:619752
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Flexion contracture, Synoviti... ORPHA:77297
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema ORPHA:79278
Familial Benign Copper Deficiency
Early balding, Acne ORPHA:1551
Erythema Elevatum Diutinum
Skin rash ORPHA:90000
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Folliculitis, Nail dystrophy OMIM:167210
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... ORPHA:436159
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... ORPHA:275
Iga Pemphigus
Neutrophilic infiltration of the skin, Pruritus, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Erythroderma OMIM:614328
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... ORPHA:139402
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Rheumatoid arthritis ORPHA:48377
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Alopecia, Dorsocervical fat pad, Hirsutism OMIM:615830
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash ORPHA:85414
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Lipodystrophy, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conj... OMIM:617591
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... ORPHA:85436
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis OMIM:109650
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti... OMIM:186580
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... ORPHA:294023
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E... OMIM:615508
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pruritus, Pustule, Cheilitis, Eosinophilic dermal i... ORPHA:293173
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections ORPHA:94059
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Hirsutism ORPHA:2795
B4Galt1-Cdg
Inflammatory abnormality of the skin ORPHA:79332
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Sparse eyelashes, Inflammatory abnormality of the skin OMIM:610768
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... ORPHA:32960
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... ORPHA:29207
Mullerian Aplasia And Hyperandrogenism
Acne, Hirsutism OMIM:158330
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumonia, Cheilitis, Nail ... ORPHA:158668
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation ORPHA:556
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent pneumonia, Chron... OMIM:102700
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Refractory Celiac Disease
Inflammatory abnormality of the skin ORPHA:398063
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... ORPHA:391487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Pneumonia ORPHA:26793
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... ORPHA:3260
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Keratit... ORPHA:95455
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Cutis Laxa, Autosomal Dominant 3
Hernia OMIM:616603
Autosomal Dominant Cutis Laxa
Inguinal hernia, Bronchiectasis, Hernia, Pyelonephritis ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Umbilical hernia, Inguinal hernia OMIM:219150
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 9B
Elbow flexion contracture ORPHA:447757
Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616586
Autosomal Dominant Spastic Paraplegia Type 9A
ORPHA:447753
Autosomal Recessive Spastic Paraplegia Type 9B
ORPHA:447760
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664

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 Aldh18a1

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 Aldh18a1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Aldh18a1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Aldh18a1tm1a(KOMP)Wtsi PMC6459510
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS genetics (October 2014) Aldh18a1tm1a(KOMP)Wtsi PMC4207618

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
Aldh18a1tm44728(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aldh18a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aldh18a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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