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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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, Hernia, Pyelonephritis, Bronchiectasis ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Sparse hair, Umbilical 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, Acne inversa, Perifolliculitis OMIM:613737
Acne Inversa, Familial, 1
Atypical scarring of skin, Acne inversa OMIM:142690
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Abnormal hair morphology, Pruritus, Cellulitis ORPHA:345
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Chilblain Lupus 2
Chilblains OMIM:614415
Kerion Celsi
Recurrent skin infections, Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormal... ORPHA:499
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp, Perifolliculitis OMIM:260910
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o... ORPHA:90160
Quinquaud Folliculitis Decalvans
Scarring, Scarring alopecia of scalp, Pustule, Patchy alopecia, Recurrent skin infections, Abnorm... 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, Acne inversa, Perifolliculitis OMIM:613736
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o... ORPHA:90159
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... 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
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Lipoatrophy, Pruritus,... ORPHA:90158
Centrifugal Lipodystrophy
Lymphadenitis, Alopecia, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissu... ORPHA:90156
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Immunodeficiency 15A
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Dracunculiasis
Flexion contracture, Cellulitis, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Pru... ORPHA:231
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Nail dystrophy OMIM:618806
Ichthyosis Hystrix Of Curth-Macklin
Flexion contracture, Nail dystrophy, Recurrent skin infections ORPHA:79503
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cellulitis, Cutaneous abscess, Recurrent otitis media, Recurrent skin infections, Atopic dermatitis OMIM:618944
Immunodeficiency 104
Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia OMIM:608971
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis OMIM:613148
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Mal De Meleda
Superficial dermal perivascular inflammatory infiltrate, Flexion contracture, Inflammatory abnorm... ORPHA:87503
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Pseudopelade Of Brocq
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infections, Abnorm... ORPHA:129
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis OMIM:603165
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash ORPHA:90280
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Eczema OMIM:176090
Keratolytic Winter Erythema
Pustule ORPHA:50943
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism, Acne OMIM:604931
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus ORPHA:330064
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Cellulitis, Arthritis, Elbow flexion contracture, Cystic acne, Colitis,... OMIM:604416
Ulerythema Ophryogenesis
Contact dermatitis, Sparse lateral eyebrow, Acne ORPHA:3406
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, R... OMIM:618282
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Immunodeficiency 50
Eczema OMIM:300988
Elastoderma
Eczema, Erysipelas ORPHA:228240
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren... OMIM:300635
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse scalp hair, Eczema, Sparse eyelashes, Pruritus, Blepharitis, Sparse hair... OMIM:618535
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema OMIM:254400
Pityriasis Rubra Pilaris
Pustule, Pruritus, Eczema, Erythroderma ORPHA:2897
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Acne inversa, Eczema, Coarse hair, Sparse hair, Atopic dermatitis OMIM:301845
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:612567
Pellagra-Like Syndrome
Skin rash OMIM:260650
Chilblain Lupus 1
Chilblains OMIM:610448
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Enamel hypoplasia, Sparse eyebrow, Alopecia, Folliculitis, Scarring alopecia of s... OMIM:612843
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent... OMIM:616576
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Skin rash ORPHA:1658
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Keloids, Absent eyelashes, Brittle hair, Alopecia universalis, Tricho... ORPHA:2890
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Increased inflammatory response, Acne ORPHA:69126
Isolated Agammaglobulinemia
Cellulitis, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recurrent cutaneous absces... ORPHA:229717
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Conjunctivitis, Sparse eyebrow, Folliculitis, Keratitis, Scarring alopecia of scalp, Sparse eyela... OMIM:308800
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Eczematoid ... OMIM:147060
Majeed Syndrome
Skin rash, Flexion contracture, Osteomyelitis, Inflammatory abnormality of the skin OMIM:609628
Familial Male-Limited Precocious Puberty
Abnormal hair morphology, Acne ORPHA:3000
Juvenile Arthritis
Skin rash OMIM:618795
Lupus Erythematosus Tumidus
Scarring, Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Cellulitis, Hepatitis, Skin rash, Arthritis, Sinus... ORPHA:33110
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Joint contracture of the hand, Eczema, Recurrent otitis media, Keratitis OMIM:618523
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Trichorrhexis nodosa, Sparse lateral eyebrow, Acne inversa, Scarring al... OMIM:617337
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Lipodystrophy, Chilblains, Membranoproliferative glomerulonephritis OMIM:619858
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Recurrent aphthous stomatitis, Skin rash, Erythema nodosum OMIM:611762
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Candidiasis, Familial, 8
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis OMIM:615527
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Pruritus, Osteomyelitis, Skin rash, Arthritis, Inflammation of the large intestine, Psoriasiform ... ORPHA:324964
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum OMIM:615214
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Skin rash, Inflammation of the large intestine, Gastritis OMIM:618108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Sinusitis, Recurrent otitis media, Inflammatory abnormality of the skin ORPHA:277
Yao Syndrome
Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericarditis OMIM:617321
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema OMIM:177000
Sapho Syndrome
Osteomyelitis, Enthesitis, Skin rash, Arthritis, Synovitis, Inflammation of the large intestine, ... ORPHA:793
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Osteomyelitis, Cellulitis, Hepatitis, Skin rash, Arthritis, Recurrent c... ORPHA:47
Immunodeficiency 58
Recurrent aphthous stomatitis, Bronchiectasis, Allergic rhinitis, Atrophic scars, Eczema, Cutaneo... OMIM:618131
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic infiltration of the esophagus, R... OMIM:243700
Papillon-Lefèvre Syndrome
Sparse body hair, Periodontitis, Chronic furunculosis, Severe periodontitis, Hypertrichosis, Recu... ORPHA:678
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Fasciitis, Inflammatory... ORPHA:39812
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Pyoderma Gangrenosum
Rheumatoid arthritis, Atrophic scars, Myositis, Inflammation of the large intestine, Pustule ORPHA:48104
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus ORPHA:280779
Necrobiosis Lipoidica
Atrophic scars, Inflammatory abnormality of the skin ORPHA:542592
Psoriasis 14, Pustular
Oligoarthritis, Cholangitis, Pustule, Psoriasiform dermatitis, Nail dystrophy OMIM:614204
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Skin rash, Eczema, Fine hair, Erythroder... ORPHA:634
Neutropenia, Severe Congenital, X-Linked
Eczema OMIM:300299
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Psoriasiform dermatitis, Sparse hair, Erythroderma OMIM:615508
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Bronchiectasis, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurr... OMIM:619752
Majeed Syndrome
Flexion contracture, Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Abn... ORPHA:77297
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema ORPHA:79278
Familial Benign Copper Deficiency
Early balding, Acne ORPHA:1551
Pachyonychia Congenita 2
Dry hair, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Folliculitis, Nail dystrophy OMIM:167210
Vexas Syndrome
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Skin rash, Erysipelas, Myositis, Maculopapular exanthema OMIM:142680
Erythema Elevatum Diutinum
Skin rash ORPHA:90000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Erythroderma OMIM:614328
Pemphigus Foliaceus
Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Psoriasiform dermatitis ORPHA:79481
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Alopecia, Osteomyelitis, Crusting erythematous dermatitis, Hepatiti... ORPHA:37042
Iga Pemphigus
Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess, Pustule, Pruritus ORPHA:555905
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism, Acne, Dorsocervical fat pad OMIM:615830
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Rheumatoid arthritis ORPHA:48377
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Skin rash, Anterior uveitis, Juvenile rheumatoid arthritis ORPHA:85414
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Psoriasiform dermatitis OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Flexion contracture, Skin rash, Arthritis, Myositis, Lipodystrophy, Sinusitis, Pa... OMIM:617591
Rare Cutaneous Lupus Erythematosus
Malar rash, Leukonychia, Crusting erythematous dermatitis, Discoid lupus rash, Atrophic scars, Ne... ORPHA:535
Immunodeficiency 68
Lymphadenitis, Septic arthritis, Recurrent skin infections OMIM:612260
Kid Syndrome
Knee flexion contracture, Sparse eyebrow, Angular cheilitis, Conjunctivitis, Recurrent bacterial ... ORPHA:477
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Pruritus, Iridocyclitis, Enthesitis, Iritis, Sk... ORPHA:85436
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Arthritis, Iritis, Epididymitis, Patchy alopecia OMIM:109650
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Blau Syndrome
Camptodactyly of finger, Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Pericar... OMIM:186580
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Horizontal eyebrow, Slow-growing scalp hair, Pustule, Psoria... ORPHA:294023
Complement Factor I Deficiency
Septic arthritis, Pyelonephritis, Recurrent sinusitis, Recurrent otitis media, Glomerulonephritis... OMIM:610984
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Sweet Syndrome
Oligoarthritis, Acne inversa, Myositis, Inflammation of the large intestine, Pustule, Predominant... ORPHA:3243
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Allergic rhinitis, Rheumatoid arthritis, Skin rash, Arthritis, Chronic sinusitis,... ORPHA:183675
Uremic Pruritus
Recurrent skin infections, Pruritus, Inflammatory abnormality of the skin ORPHA:94059
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin ORPHA:2483
Fowler Urethral Sphincter Dysfunction Syndrome
Hirsutism, Acne ORPHA:2795
B4Galt1-Cdg
Inflammatory abnormality of the skin ORPHA:79332
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Cellulitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, M... ORPHA:32960
Congenital Disorder Of Glycosylation, Type Im
Sparse eyelashes, Inflammatory abnormality of the skin, Sparse eyebrow, Alopecia OMIM:610768
Reactive Arthritis
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Pericarditis... ORPHA:29207
Mullerian Aplasia And Hyperandrogenism
Hirsutism, Acne OMIM:158330
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Urinary bladder inflammation, Orchitis, Pruritus ORPHA:556
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Alopecia universalis, Chapped lip, Recurrent pneumonia, Recurrent skin infections, Prur... ORPHA:158668
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pne... OMIM:102700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Arthritis, Skin rash, Inflammation of the large intestine, Chronic gastritis, C... OMIM:301074
Refractory Celiac Disease
Inflammatory abnormality of the skin ORPHA:398063
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis, Thyroiditis, Ecze... ORPHA:391487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Idiopathic Hypereosinophilic Syndrome
Erythroderma, Inflammatory abnormality of the skin, Arthritis, Eczema, Cholangitis, Chronic hepat... ORPHA:3260
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Arthritis, Gastrointestinal inflamm... ORPHA:48435
Leukocyte Adhesion Deficiency
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Perianal abscess, Bronchiectasis, C... ORPHA:2968
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Prostatitis, Inflammatory abnormality of the skin, I... ORPHA:449395
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Conjunctivitis, Rhinitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis s... ORPHA:95455
Primary Triglyceride Deposit Cardiomyovasculopathy
Pancreatitis, Inflammatory abnormality of the skin ORPHA:565612
Cutis Laxa, Autosomal Dominant 3
Hernia OMIM:616603
Autosomal Dominant Cutis Laxa
Inguinal hernia, Hernia, Pyelonephritis, Bronchiectasis ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Sparse hair, Umbilical 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

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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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