Gene Summary

Name:
ribosomal protein S20
Synonyms:
Dsk4,  4632426K06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased exploration in new environment Rps20em1(IMPC)Bay HET Early adult 1.25×10-05
embryonic lethality prior to organogenesis Rps20em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Rps20em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

VIP of right eye

17 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

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, Irritability, Memory impairment ORPHA:440437
Blackfan-Diamond Anemia
Absent thumb, Low-set ears, Partial duplication of thumb phalanx, Triphalangeal thumb, Abnormalit... ORPHA:124

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurofibromatosis Type 6
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
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
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hearing impairment, Multiple cafe-au-lait spots, Freckling, Hypermela... ORPHA:241
Schizophrenia 19
Cognitive impairment OMIM:617629
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
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
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
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, 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
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Hyperpigmentation of the skin, Freckling OMIM:194400
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, Sensorineural hearing impairment, White eyelashes, Spotty hype... OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Hyperpigmentation of the skin, Short finger OMIM:302000
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment ORPHA:2222
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, White eyelashes, Bilateral sensorineural hearing impairment, Congenit... OMIM:103500
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Aplasia/Hypoplasia of the distal ph... ORPHA:2513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Severe sensorineural hearing impairment, White forelock, Nume... OMIM:601706
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Congenital sensorineural hearing ... OMIM:300700
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Punctate palmoplantar hyperkeratosis, Mottle... OMIM:131960
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Sensorineural hearing impairment, Partial albin... ORPHA:998
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
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, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Palmar... ORPHA:79397
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin OMIM:617294
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Mottled pigmentation OMIM:616108
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Freckling, Brachytelomesophalangy ORPHA:1547
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo OMIM:277465
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, Senso... OMIM:613265
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Triphalangeal thumb, Sho... ORPHA:2251
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Hearing impairment OMIM:172850
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Salt And Pepper Developmental Regression Syndrome
Hypermelanotic macule, Hyporeflexia of upper limbs, Abnormality of skin pigmentation, Hearing imp... OMIM:609056
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized reticulate brown pigmentatio... ORPHA:158681
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin ORPHA:46487
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation ORPHA:79411
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Abnormality of ulnar metaphysis, Hypopigmentation of the skin, Narrow p... ORPHA:177910
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79402
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Terminal Osseous Dysplasia
Brachydactyly, Abnormality of skin pigmentation, Toe clinodactyly, Low-set ears, Mesomelic leg sh... OMIM:300244
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Watson Syndrome
Multiple cafe-au-lait spots, Axillary freckling OMIM:193520
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
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
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Al-Raqad Syndrome
Brachydactyly, Sandal gap, Hypopigmentation of the skin, Low-set ears OMIM:616459
Acral Peeling Skin Syndrome
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin ORPHA:263534
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Hypopigmentation of... OMIM:601957
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches, Joint contracture of the hand ORPHA:220402
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation OMIM:225050
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin ORPHA:75563
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Freckling, Abnormality of limb bone morphology ORPHA:1573
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Sensorineural hearing impairment... ORPHA:3437
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
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
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:626
Cranio-Osteoarthropathy
Clubbing of toes, Mottled pigmentation, Deviation of finger, Abnormality of tibia morphology ORPHA:1525
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation OMIM:611040
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines ORPHA:101003
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hearing impairment ORPHA:457260
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Osteolytic defect... ORPHA:50815
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation OMIM:613987
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Cone-Rod Dystrophy 10
Abnormality of skin pigmentation OMIM:610283
Glucocorticoid Deficiency 1
Hyperpigmentation of the skin OMIM:202200
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Hyperpigmentation of the skin OMIM:104100
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Giant melanosomes in melanocytes, Ocular albinism, Freckling ORPHA:54
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Carney Complex, Type 1
Red hair, Profuse pigmented skin lesions, Freckling, Multiple lentigines OMIM:160980
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Low-set ears OMIM:612379
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Sensorineural ... ORPHA:3214
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap, Abnormality of skin pigmentation, Low-set ears ORPHA:2180
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Porphyria
Abnormality of skin pigmentation, Dupuytren contracture ORPHA:738
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Palmoplantar keratoderma, Abnormalit... ORPHA:1979
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Abnormality of skin pigmentation, Tapered finger ORPHA:2930
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Abnormality of the upper limb ORPHA:834
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Arachnodactyly, Abnormality of skin pigmentation, Palmoplantar cutis gyrata, Long toe ORPHA:75496
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hearing impairment, Protruding ear ORPHA:1806
Hennekam-Beemer Syndrome
Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Conductive hearing impairment, ... ORPHA:2135
Fanconi Anemia, Complementation Group E
Absent thumb, Abnormality of skin pigmentation, Absent radius, Short thumb, Cafe-au-lait spot, Co... OMIM:600901
Fanconi Anemia, Complementation Group A
Absent thumb, Abnormality of skin pigmentation, Absent radius, Short thumb, Cafe-au-lait spot, Co... OMIM:227650
Cohen Syndrome
Abnormality of skin pigmentation, Finger syndactyly, Sandal gap, Clinodactyly of the 5th finger, ... ORPHA:193
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Low-set ears, Clinodactyly of the 5th finger, Tapered finger, M... ORPHA:65286
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Abnormality of skin pigmentation, Acroost... ORPHA:2457
Bone Marrow Failure Syndrome 3
Cupped ear, Abnormality of skin pigmentation, Hearing impairment, Metaphyseal dysplasia OMIM:617052
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Hyperpigmentation of the skin ORPHA:50814
Fanconi Anemia, Complementation Group D2
Absent thumb, Abnormality of skin pigmentation, Absent radius, Low-set ears, Partial duplication ... OMIM:227646
Incontinentia Pigmenti
Abnormality of skin pigmentation, Finger syndactyly, Hypopigmented skin patches, Deviation of fin... ORPHA:464
Alkaptonuria
Irregular hyperpigmentation, Abnormality of skin pigmentation ORPHA:56
Ring Chromosome 13 Syndrome
Abnormality of skin pigmentation, Aplasia/Hypoplasia of the thumb, Partial absence of foot, Poste... ORPHA:96176
Ring Chromosome 7 Syndrome
Slender finger, Abnormality of skin pigmentation, Single transverse palmar crease, Small earlobe,... ORPHA:1449
Ablepharon Macrostomia Syndrome
Toe syndactyly, Abnormality of skin pigmentation, Atresia of the external auditory canal, Microti... ORPHA:920
Proteus Syndrome
Central heterochromia, Abnormality of skin pigmentation, Upper limb asymmetry, Finger syndactyly,... ORPHA:744
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Palmoplantar keratoderma, Short 5th metacarpal, Finger syndacty... ORPHA:2908
Gardner Syndrome
Abnormality of skin pigmentation ORPHA:79665
Familial Colorectal Cancer Type X
Anxiety, Irritability, Memory impairment ORPHA:440437
Blackfan-Diamond Anemia
Absent thumb, Low-set ears, Partial duplication of thumb phalanx, Triphalangeal thumb, Abnormalit... 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.

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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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