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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 1.26×10-05
embryonic lethality prior to organogenesis Rps20em1(IMPC)Bay HOM   E9.5 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

VIP of left fundus

17 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of right eye

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

VIP of left eye

17 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
Memory impairment, Attention deficit hyperactivity disorder, Depression, Irritability ORPHA:440437
Diamond-Blackfan Anemia
Low-set ears, Absent thumb, Abnormality of the thenar eminence, Short thumb, Partial duplication ... 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
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation OMIM:615674
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
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
Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
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
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... ORPHA:42665
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation OMIM:620199
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Hyperpigmentation of the skin, Short finger OMIM:302000
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Tietz Albinism-Deafness Syndrome
Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes... OMIM:103500
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation ORPHA:2222
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ... OMIM:227010
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... ORPHA:2513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo... OMIM:601706
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,... OMIM:131960
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... ORPHA:998
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment OMIM:300650
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypermelanotic macule, Hypomelanotic macule, Spotty hypopigmentation, Palma... ORPHA:79397
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin OMIM:617294
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Freckling ORPHA:1547
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori... OMIM:193510
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Short thumb, Camptodacty... ORPHA:2251
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613265
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin ORPHA:46487
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation ORPHA:79411
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Albinism-Deafness Syndrome
Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini... OMIM:300700
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypopigmentation of... ORPHA:177910
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Premature graying of body hair, Vitiligo, Scapular winging, Hyperpigmentatio... OMIM:270750
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79402
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Darier Disease
Hypermelanotic macule, Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:218
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Terminal Osseous Dysplasia
Low-set ears, Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg s... OMIM:300244
Acral Peeling Skin Syndrome
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin ORPHA:263534
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m... OMIM:601957
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation OMIM:225050
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Vitiligo, Sensorineural hearing impairment... ORPHA:3437
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin ORPHA:75563
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Abnormal limb bone morphology, Freckling ORPHA:1573
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:626
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... 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 retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation ORPHA:1810
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Cranio-Osteoarthropathy
Abnormal tibia morphology, Mottled pigmentation, Deviation of finger, Clubbing of toes ORPHA:1525
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Abnormality of skin pigmentation ORPHA:457260
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Alopecia Totalis
Vitiligo ORPHA:700
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
Watson Syndrome
Low-set ears, Inguinal freckling, Multiple cafe-au-lait spots, Axillary freckling, Posteriorly ro... OMIM:193520
Palmoplantar Keratoderma And Congenital Alopecia 1
Hyperpigmentation of the skin, Palmoplantar keratoderma OMIM:104100
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Giant melanosomes in melanocytes, Freckling, Ocular albinism ORPHA:54
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Freckling, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule OMIM:618373
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Sensorineural hearing impairment, Hyperpigment... ORPHA:3214
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, Brachydactyly, Abnormality of skin pigmentation ORPHA:2180
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Carney Complex, Type 1
Multiple lentigines, Red hair, Profuse pigmented skin lesions, Freckling OMIM:160980
Waardenburg Syndrome
Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ... ORPHA:3440
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Abnormality of the upper limb, Abnormality of skin pigmentation, Premat... ORPHA:1979
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Abnormality of skin pigmentation, Tapered finger ORPHA:2930
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Arachnodactyly, Long toe, Palmoplantar cutis gyrata, Abnormality of skin pigmentation ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation OMIM:612379
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Hearing impairment, Abnormality of skin pigmentation ORPHA:1806
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Camptodactyly of ... ORPHA:2135
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Genu valgum, Abnormality of re... ORPHA:193
Fanconi Anemia, Complementation Group A
Absent thumb, Hearing impairment, Short thumb, Abnormality of skin pigmentation, Absent radius, C... OMIM:227650
3Q29 Microdeletion Syndrome
Low-set ears, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Macrotia, Tapered... 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
Fanconi Anemia, Complementation Group D2
Low-set ears, Absent thumb, Hearing impairment, Short thumb, Preaxial hand polydactyly, Partial d... OMIM:227646
Incontinentia Pigmenti
Irregular hyperpigmentation, Deviation of finger, Finger syndactyly, Hypopigmented skin patches, ... ORPHA:464
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Prominent crus of helix, 3-4 toe syndactyly, Genu v... ORPHA:1449
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Partial absence ... ORPHA:96176
Ablepharon Macrostomia Syndrome
Toe syndactyly, Atresia of the external auditory canal, Hearing impairment, Camptodactyly of fing... ORPHA:920
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... ORPHA:2908
Gardner Syndrome
Abnormality of skin pigmentation ORPHA:79665
Lymphangioleiomyomatosis
Abnormality of skin pigmentation ORPHA:538
Familial Colorectal Cancer Type X
Memory impairment, Attention deficit hyperactivity disorder, Depression, Irritability ORPHA:440437
Diamond-Blackfan Anemia
Low-set ears, Absent thumb, Abnormality of the thenar eminence, Short thumb, Partial duplication ... 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
Rps20tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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