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Gene: Slurp2 MGI:1916712

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
secreted Ly6/Plaur domain containing 2
Synonyms:
2300005B03Rik

Order Alleles

IMPC Data Collections

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

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.

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 Slurp2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slurp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... ORPHA:79503
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars OMIM:131850
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Delayed puberty ORPHA:2297
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Growth delay, Short stature ORPHA:2812
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic scars, Failure to thrive ORPHA:89838
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Aquagenic Palmoplantar Keratoderma
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Lymphatic Malformation 4
Hyperkeratosis, Cellulitis, Pedal edema, Lymphedema OMIM:615907
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopl... ORPHA:312
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Short stature, Decreased LDL ch... OMIM:616834
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, L... ORPHA:166113
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplant... OMIM:602540
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis OMIM:212360
Atrophoderma Vermiculata
Pruritus, Atrophic scars, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Ulerythema Ophryogenesis
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis ORPHA:3406
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Scarring OMIM:247100
Moynahan Syndrome
Hyperkeratosis, Short stature, Cachexia ORPHA:2574
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... ORPHA:79395
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Atrophic scars, Scarring ORPHA:89843
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Pruritis o... ORPHA:64745
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... ORPHA:90280
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay, Hypoalbumi... OMIM:246700
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Flexion contracture, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyo... OMIM:242300
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthy... OMIM:613576
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:607936
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Lipoid Proteinosis
Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Dystonia ORPHA:530
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Lymphatic Malformation 12
Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkerat... OMIM:620014
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Erythrokeratodermia Variabilis
Skin rash, Short stature, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis ORPHA:317
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Hypocholesterolemia OMIM:610539
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Hernia, Elevated circulating creatine kinase concentration, Follicular hyperkerat... ORPHA:300179
Proteus Syndrome
Lipoma, Hyperkeratosis, Multiple lipomas OMIM:176920
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Int... OMIM:133190
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Flynn-Aird Syndrome
Hyperkeratosis, Ataxia OMIM:136300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Mednik Syndrome
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... ORPHA:171851
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Cellulitis, Erysipelas ORPHA:79452
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis ORPHA:2584
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Short stature OMIM:618625
Sjögren-Larsson Syndrome
Hyperkeratosis, Short stature, Abnormal dental enamel morphology, Ichthyosis ORPHA:816
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Abnormal dental enamel morphology ORPHA:3019
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... OMIM:607602
Bathing Suit Ichthyosis
Parakeratosis, Multiple joint contractures, Thickened skin, Erythroderma, Palmoplantar hyperkerat... ORPHA:100976
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma OMIM:146590
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Lamellar Ichthyosis
Short stature, Pruritus, Erythroderma, Dehydration, Hyperkeratosis, Ichthyosis ORPHA:313
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Short stature, Generali... OMIM:612526
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Peroxisome Biogenesis Disorder 3B
Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hypocho... OMIM:266510
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:614457
Harlequin Ichthyosis
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis ORPHA:457
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholy... OMIM:615508
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ataxia, Tremor, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Short stature, Hypocholesterolemia OMIM:610883
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Short stature OMIM:616029
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis ORPHA:254478
Irida Syndrome
Hyperkeratosis, Decreased circulating copper concentration, Ichthyosis ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Sialidosis Type 1
Ataxia, Short stature, Tremor, Hyperkeratosis, Gait disturbance, Hernia ORPHA:812
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Joint contracture of the 5th finger, Short stature, Camptodactyly of finger ORPHA:1883
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Hyperkeratosis, Erythroderma, Failure to thrive OMIM:609180
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragm... ORPHA:218
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Atypical sc... ORPHA:182
Noonan Syndrome 8
Short stature, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Pleural effusio... OMIM:615355
Bethlem Myopathy
Waddling gait, Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle fl... ORPHA:610
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Joint contracture, Follicular hyperkeratosis OMIM:617066
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Overweight, Follicular hyperkeratosis, Delayed puberty, Mildly eleva... ORPHA:486815
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Short stature, ... ORPHA:96180
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit... OMIM:256500
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Short stature, Ichthyosis ORPHA:281090
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Growth delay, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplanta... OMIM:242100
Hypotrichosis Simplex Of The Scalp
Pruritus, Hyperkeratosis, Parakeratosis, Atopic dermatitis ORPHA:90368
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Short stature ORPHA:1573
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Tyrosinemia Type 2
Tremor, Hyperkeratosis, Palmoplantar keratoderma, Ataxia ORPHA:28378
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Failure to thrive, Eczema, Ichthyosis OMIM:612379
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Orthokeratosis, Acne inversa OMIM:617337
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker... OMIM:616295
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive, Short stature OMIM:615279
Donohue Syndrome
Postnatal growth retardation, Adipose tissue loss, Hyperkeratosis, Severe failure to thrive, Acan... OMIM:246200
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Dysmetria, Hy... OMIM:212065
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Hyperkeratosis... OMIM:610768
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Hyperkeratosis, Steppage gait, Gait imbalance ORPHA:36386
Lichen Planopilaris
Pruritus, Hyperkeratosis ORPHA:525
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis, Palmoplantar hyperkeratosis ORPHA:158681
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Scarring alopecia of scalp, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:308800
Leopard Syndrome 3
Growth delay, Hyperkeratosis, Short stature, Epidermal hyperkeratosis OMIM:613707
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma OMIM:224750
Chylomicron Retention Disease
Hypertriglyceridemia, Growth delay, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Flexion contracture, Follicular hyperkeratosis, Failure to thrive, Slender build, Mi... OMIM:254090
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:607765
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa ORPHA:79145
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Hypophosphatemia ORPHA:2611
Fucosidosis
Lipoatrophy, Failure to thrive, Acrocyanosis, Generalized hyperkeratosis ORPHA:349
Gaucher Disease, Perinatal Lethal
Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Opisthotonus, Hyperkeratosis, C... OMIM:608013
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Abnormal dental enamel morphology, Moderate postnatal growth retardation, H... ORPHA:1005
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Failure to thrive, Ataxia, Decreased L... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Hyperkeratosis, Peau d'orange, Intrauterine growth retardation, Enamel hypoplasia, ... OMIM:614576
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, P... OMIM:612852
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Short stat... OMIM:604173
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Unsteady gait, Generalized hyperkeratosis, Generalized ichthyosis ORPHA:2269
Trichothiodystrophy 1, Photosensitive
Short stature, Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Hyper... OMIM:601675
Costello Syndrome
Short stature, Abnormal dental enamel morphology, Polyhydramnios, Failure to thrive in infancy, H... ORPHA:3071
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... ORPHA:2309
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Abnormal dental enamel morphology ORPHA:1028
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash ORPHA:163525
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem... OMIM:610644
Psoriasis 14, Pustular
Pustule, Parakeratosis, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentr... OMIM:614204
Singleton-Merten Syndrome 2
Hyperkeratosis, Short stature OMIM:616298
Alg12-Cdg
Hyponatremia, Abnormal adipose tissue morphology, Hypoalbuminemia, Hypocholesterolemia, Intrauter... ORPHA:79324
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Failure to thrive in infancy, Corneal scarring OMIM:301220
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Palmoplantar hyperkeratosis, Growth delay,... OMIM:617388
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Elbow flexion contracture, Corneal scarring, Knee flexion co... OMIM:148210
Monilethrix
Follicular hyperkeratosis ORPHA:573
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Enamel hypoplasia OMIM:607626
Chronic Mucocutaneous Candidiasis
Pruritus, Hyperkeratosis, Skin rash, Abnormal dental enamel morphology ORPHA:1334
Werner Syndrome
Short stature, Lipodystrophy, Lipoatrophy, Hyperkeratosis, Slender build, Chondrocalcinosis ORPHA:902
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Short stature, Elevated 8-dehydrocholesterol, Flexion contracture, Elevated 8(9)-c... OMIM:308050
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edem... OMIM:601812
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperk... OMIM:137940
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Scarring, Short stature, Pruritus, Palmoplantar keratoder... ORPHA:158668
Arthrogryposis And Ectodermal Dysplasia
Short stature, Abnormal dental enamel morphology, Atypical scarring of skin, Hyperkeratosis, Camp... OMIM:601701
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Dubowitz Syndrome
Inguinal hernia, Short stature, Eczema, Postnatal growth retardation, Hypocholesterolemia, Intrau... OMIM:223370
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Prolidase Deficiency
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Crusting erythematous dermatitis ORPHA:742
Bone Marrow Failure Syndrome 3
Short stature, Eczema, Hyperkeratosis, Hernia, Intrauterine growth retardation, Enamel hypoplasia... OMIM:617052
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Short stature ORPHA:1806
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Hyperkeratosis OMIM:620189
Reactive Arthritis
Pustule, Weight loss, Enthesitis, Joint swelling, Hyperkeratosis ORPHA:29207
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Short stature, Hypocholesterolemia OMIM:244450
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Failure to thrive, Xerostomia, Eczema ORPHA:238468
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin ORPHA:454831
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Thickened skin, Hyperkeratosis... ORPHA:508
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Short stature, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis... OMIM:607721
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Scleroderma,... ORPHA:90363
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Hyperparakeratosis, Lipoatrophy, Seborrheic dermatitis ORPHA:276280
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis OMIM:613102
Incontinentia Pigmenti
Skin rash, Camptodactyly of finger, Abnormal dental enamel morphology, Short stature, Hyperkerato... ORPHA:464
Noonan Syndrome 2
Short stature, Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Arthrogryposis mult... OMIM:605275
Cardiofaciocutaneous Syndrome
Short stature, Failure to thrive in infancy, Lymphedema, Hyperkeratosis, Palmoplantar keratoderma... ORPHA:1340
Cardiofaciocutaneous Syndrome 1
Short stature, Polyhydramnios, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive OMIM:115150
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... ORPHA:79501
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Ataxia, Scissor gait, Choreoathetosis OMIM:278800
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology, Weight loss ORPHA:79430
Incontinentia Pigmenti
Hyperkeratosis, Maculopapular exanthema, Scarring, Short stature OMIM:308300
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ... OMIM:257980
Noonan Syndrome 10
Increased nuchal translucency, Hyperkeratosis, Pleural effusion, Short stature OMIM:616564
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Ataxia OMIM:615510
Smith-Lemli-Opitz Syndrome
Short stature, Eczema, Growth delay, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol c... OMIM:270400
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion co... ORPHA:2908
Xeroderma Pigmentosum
Ataxia, Short stature, Thickened skin, Hyperkeratosis, Failure to thrive ORPHA:910
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Lymphedema ORPHA:79280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Inguinal hernia, Omphalocele, Recurrent skin i... OMIM:308205
Ramon Syndrome
Hyperkeratosis, Short stature, Decreased body weight OMIM:266270
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Hyperkeratosis, Failure to thrive ORPHA:75857
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Inguinal hernia, Eczema, ... ORPHA:83617
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Cowden Syndrome
Short stature, Ataxia, Palmoplantar keratoderma, Lipoma, Failure to thrive, Generalized hyperkera... ORPHA:201
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Inguinal hernia, Atrophic scars, Follicular hyperkeratosis, Umbilical hernia OMIM:614557
Fabry Disease
Short stature, Hyperlipidemia, Hyperkeratosis, Delayed puberty, Abnormal circulating lipid concen... ORPHA:324
Atypical Werner Syndrome
Hypertriglyceridemia, Lipoatrophy, Short stature, Generalized lipodystrophy, Hyperkeratosis, Decr... ORPHA:79474
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Follicular hyperkeratosis OMIM:158310
Eec Syndrome
Hyperkeratosis, Xerostomia, Abnormal dental enamel morphology, Short stature ORPHA:1896
Lymphatic Filariasis
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema ORPHA:2035
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Eczema, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Slen... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Eczema, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Slen... ORPHA:363958
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Severe short stature, Abnormal dental enamel morphology, Camptodact... ORPHA:2273
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Short stature, Atypical scarring of skin, Difficulty walking, Follicular hyperke... ORPHA:536545
Kanzaki Disease
Hyperkeratosis, Lymphedema OMIM:609242
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Di... OMIM:210710
Chime Syndrome
Hyperkeratosis, Ichthyosis ORPHA:3474
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Joint swelling, Follicular hyperkeratosis, ... OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Inguinal hernia, Follicular hyperkeratosis OMIM:225400
Leprosy
Hyperkeratosis, Steppage gait ORPHA:548
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Epidermal hyperkeratosis, A... ORPHA:1662
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Inguinal hernia, Xerostomia OMIM:129900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Localized hypoplasia of dental enamel, Epidermal thickening, Thick... ORPHA:73223
Restrictive Dermopathy 1
Limb joint contracture, Polyhydramnios, Epidermal hyperkeratosis, Flexion contracture, Intrauteri... OMIM:275210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Xerostomia OMIM:604292
Proteus Syndrome
Abnormal dental enamel morphology, Cachexia, Lymphedema, Thickened skin, Abnormal subcutaneous fa... ORPHA:744

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 Slurp2

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 Slurp2.

No publications found that use IMPC mice or data for Slurp2.

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
Slurp2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slurp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slurp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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