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Gene: Rps20 MGI:1914677

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Gene Summary

Name:
ribosomal protein S20
Synonyms:
Dsk4,  4632426K06Rik

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rps20em1(IMPC)Bay HOM   Early adult 0.00
decreased exploration in new environment Rps20em1(IMPC)Bay HET Early adult 1.30×10-05
embryonic lethality prior to organogenesis Rps20em1(IMPC)Bay HOM   E9.5 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of left eye

17 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

VIP of right fundus

17 Images

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Eye Morphology

VIP of left fundus

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Human diseases caused by Rps20 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 Rps20 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Colorectal Cancer Type X
Anxiety, Memory impairment, Irritability ORPHA:440437
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Low-set ears, Absent thumb, Short thumb, Abnormality of the u... ORPHA:124

The table below shows human diseases predicted to be associated to Rps20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Dyschromatosis Universalis Hereditaria 3
Hypermelanotic macule OMIM:615402
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Hearing im... ORPHA:241
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Tietz Syndrome
Hearing impairment, Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnorm... ORPHA:42665
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... OMIM:145250
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation OMIM:620199
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, Sensorineural hearing ... OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment ORPHA:2222
Bullous Dystrophy, Hereditary Macular Type
Short finger, Hyperpigmentation of the skin, Tapered finger OMIM:302000
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, Congenital sensorineural hearing impa... OMIM:103500
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Amyloidosis, Primary Localized Cutaneous, 3
Hypermelanotic macule, Generalized hyperpigmentation OMIM:617920
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Short distal phalanx of finger, Iris hypopigmentation, Aplasia/Hypo... ORPHA:2513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Severe sensorineural hearing impairment, White forelock, Patchy hypo... OMIM:601706
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Punctate palmoplantar hyperkeratosis, Mottled pigmentation of the trunk and proximal extremities,... OMIM:131960
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Albinism-Deafness Syndrome
Piebaldism, Albinism, Patchy hypo- and hyperpigmentation, Partial albinism, Congenital sensorineu... OMIM:300700
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Sensorineu... ORPHA:998
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Adult onset sensorineural hearing impairment, Albinism, Giant melanosomes in melanocytes OMIM:300650
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Reticulated skin pigmentation, Hypomelanotic macule, Mottled pigmentatio... ORPHA:79397
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis OMIM:617294
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Freckling, Short distal phalanx of finger ORPHA:1547
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Partial albini... OMIM:193510
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Short thumb, Protruding ear, Hypopigmented skin patches, Finger syndacty... ORPHA:2251
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, Sensorineura... OMIM:613265
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin ORPHA:46487
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Scapular winging, Prematur... OMIM:270750
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79402
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Xeroderma Pigmentosum Variant
Hyperpigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentation of the skin ORPHA:90342
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Narrow palm, Hypopigmentation of the skin, Hypopigmentation of hair, Small... ORPHA:177910
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized hypopigmentation, Spotty hyperpigmentation, Hyperpigmentation of the skin, Palmoplant... ORPHA:158681
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Darier Disease
Hypermelanotic macule, Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:218
Acral Peeling Skin Syndrome
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin ORPHA:263534
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Terminal Osseous Dysplasia
Low-set ears, Camptodactyly of finger, Camptodactyly of toe, Syndactyly, Short toe, Abnormal hand... OMIM:300244
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation OMIM:225050
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin ORPHA:75563
Vogt-Koyanagi-Harada Disease
Vitiligo, Hypopigmented skin patches, Premature graying of hair, Poliosis, Sensorineural hearing ... ORPHA:3437
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Prominent interdigital folds, Hypopigmentation of the skin, Short... OMIM:601957
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation ORPHA:1810
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Autosomal Recessive Spastic Paraplegia Type 23
Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hearing impairment ORPHA:457260
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Reticulated skin pigmentation, Conductive hearing impairment, Apl... ORPHA:50815
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Palmoplantar Keratoderma And Congenital Alopecia 1
Hyperpigmentation of the skin, Palmoplantar keratoderma OMIM:104100
Watson Syndrome
Low-set ears, Axillary freckling, Posteriorly rotated ears, Multiple cafe-au-lait spots, Inguinal... OMIM:193520
Self-Improving Dystrophic Epidermolysis Bullosa
Mitten deformity, Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79411
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
X-Linked Recessive Ocular Albinism
Freckling, Iris hypopigmentation, Ocular albinism, Giant melanosomes in melanocytes ORPHA:54
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Freckling, Hypomelanotic macule, Palmoplantar keratoderma OMIM:618373
Oculocutaneous Albinism
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... ORPHA:55
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... ORPHA:3214
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Red hair, Freckling OMIM:160980
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of the upper limb, Abnormality of skin pigmentation ORPHA:834
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Sandal gap, Abnormality of skin pigmentation, Brachydactyly ORPHA:2180
Porphyria
Dupuytren contracture, Abnormality of skin pigmentation ORPHA:738
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Waardenburg Syndrome
Conductive hearing impairment, Hypopigmented skin patches, Premature graying of hair, Heterochrom... ORPHA:3440
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of the upper limb, Palmoplantar keratoderma, Abnormality o... ORPHA:1979
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Abnormality of skin pigmentation, Tapered finger ORPHA:2930
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation OMIM:612379
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Arachnodactyly, Palmoplantar cutis gyrata, Long toe, Abnormality of skin pigmentation ORPHA:75496
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Abnormality of skin pigmentation, Hearing impairment ORPHA:1806
Hennekam-Beemer Syndrome
Camptodactyly of finger, Conductive hearing impairment, Irregular hyperpigmentation, Hearing impa... ORPHA:2135
Fanconi Anemia, Complementation Group A
Absent radius, Short thumb, Cafe-au-lait spot, Hearing impairment, Complete duplication of thumb ... OMIM:227650
Cohen Syndrome
Narrow palm, Finger syndactyly, Abnormality of retinal pigmentation, Tapered finger, Slender toe,... ORPHA:193
3Q29 Microdeletion Syndrome
Low-set ears, Tapered finger, Macrotia, Abnormality of skin pigmentation, Clinodactyly of the 5th... ORPHA:65286
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:2457
Dyskeratosis Congenita, Digenic
Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation OMIM:620040
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Abnormality of skin pigmentation ORPHA:50814
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Fanconi Anemia, Complementation Group D2
Low-set ears, Absent radius, Short thumb, Cafe-au-lait spot, Hearing impairment, Complete duplica... OMIM:227646
Alkaptonuria
Irregular hyperpigmentation, Abnormality of skin pigmentation ORPHA:56
Ring Chromosome 7 Syndrome
Prominent crus of helix, Cafe-au-lait spot, Slender finger, Short 5th finger, Small earlobe, Smal... ORPHA:1449
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Atresia of the external auditory canal, Hearing impairment, Toe syndacty... ORPHA:920
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Posteriorly rotated ears, Cafe-au-lait spot, Apla... ORPHA:96176
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Palmoplantar keratoderma, Short... ORPHA:2908
Proteus Syndrome
Low-set ears, Upper limb asymmetry, Hallux valgus, Irregular hyperpigmentation, Central heterochr... ORPHA:744
Gardner Syndrome
Abnormality of skin pigmentation ORPHA:79665
Familial Colorectal Cancer Type X
Anxiety, Memory impairment, Irritability ORPHA:440437
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Low-set ears, Absent thumb, Short thumb, Abnormality of the u... ORPHA:124

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 Rps20

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 Rps20.

No publications found that use IMPC mice or data for Rps20.

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
Rps20em1(IMPC)Bay Exon Deletion Mice, Tissue
Rps20tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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