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
preweaning lethality, complete penetrance Rps20em1(IMPC)Bay HOM   Early adult 0.00
embryonic lethality prior to organogenesis Rps20em1(IMPC)Bay HOM   E9.5 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.

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

VIP of right eye

17 Images

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of right fundus

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

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
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Absent thumb, Microtia, Partial duplication of thumb phalanx,... ORPHA:124
Familial Colorectal Cancer Type X
ORPHA:440437

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
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
Hypermelanotic macule, Hearing impairment, Freckling, Spotty hypopigmentation, Multiple cafe-au-l... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation 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
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... 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
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... 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
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 2F
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... OMIM:619947
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Ermine Phenotype
Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, ... OMIM:227010
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
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
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation ORPHA:2222
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Tapered finger, Short finger OMIM:302000
Tietz Albinism-Deafness Syndrome
Congenital sensorineural hearing impairment, Blue irides, Generalized hypopigmentation, White eye... OMIM:103500
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
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, Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypo... 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, Patchy hypo- and hyperpigmentation, Nume... OMIM:601706
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,... OMIM:131960
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Albinism-Deafness Syndrome
Congenital sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Partial albinism... OMIM:300700
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Albinism-Deafness Syndrome
Sensorineural hearing impairment, Heterochromia iridis, Irregular hyperpigmentation, Partial albi... ORPHA:998
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment OMIM:300650
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Palmar hyperkeratosis, Mott... ORPHA:79397
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis OMIM:617294
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Mottled pigmentation OMIM:616108
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Freckling, Brachytelomesophalangy ORPHA:1547
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Waardenburg Syndrome, Type 2A
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, White eyebrow, A... OMIM:193510
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo OMIM:277465
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Camptodactyly of finger, Short thumb, Triphalangeal thumb, Hyperpigmentation of t... ORPHA:2251
Waardenburg Syndrome, Type 4B
Sensorineural hearing impairment, Blue irides, White eyebrow, White eyelashes, Heterochromia irid... OMIM:613265
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Deafness, Congenital, With Vitiligo And Achalasia
Hearing impairment, Vitiligo OMIM:221350
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin ORPHA:46487
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Salt And Pepper Developmental Regression Syndrome
Hearing impairment, Abnormality of skin pigmentation, Hypermelanotic macule, Hyporeflexia of uppe... OMIM:609056
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation ORPHA:79411
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... 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
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas ORPHA:90342
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
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Darier Disease
Palmoplantar keratoderma, Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:218
Al-Raqad Syndrome
Hypopigmentation of the skin, Sandal gap, Low-set ears, Brachydactyly OMIM:616459
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
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 distal ... OMIM:601957
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation OMIM:225050
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Freckling, Abnormality of limb bone morphology ORPHA:1573
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin ORPHA:75563
Vogt-Koyanagi-Harada Disease
Sensorineural hearing impairment, Poliosis, Vitiligo, Premature graying of hair, Hypopigmented sk... ORPHA:3437
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation ORPHA:1810
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
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:626
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Cranio-Osteoarthropathy
Mottled pigmentation, Deviation of finger, Abnormality of tibia morphology, Clubbing of toes ORPHA:1525
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation OMIM:611040
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
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Hyperpigmentation of the skin OMIM:104100
Watson Syndrome
Inguinal freckling, Multiple cafe-au-lait spots, Axillary freckling, Low-set ears, Posteriorly ro... OMIM:193520
Gastrointestinal Stromal Tumor
Large hands, Hyperpigmentation of the skin OMIM:606764
X-Linked Recessive Ocular Albinism
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism ORPHA:54
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyp... ORPHA:3214
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap, Low-set ears, Abnormality of skin pigmentation ORPHA:2180
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Red hair, Multiple lentigines OMIM:160980
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation, Abnormality of the upper limb ORPHA:834
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Porphyria
Abnormality of skin pigmentation, Dupuytren contracture ORPHA:738
Waardenburg Syndrome
Conductive hearing impairment, Hypopigmentation of hair, Hearing impairment, Abnormality of skin ... ORPHA:3440
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Premature graying of hair, Abnormality of skin pigmentation, Abnormalit... 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
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Arachnodactyly, Palmoplantar cutis gyrata, Abnormality of skin pigmentation, Long toe ORPHA:75496
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation OMIM:612379
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Abnormality of skin pigmentation, Protruding ear ORPHA:1806
Hennekam-Beemer Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Irregular hyperpigmentation, Micro... ORPHA:2135
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormality of skin pigmentation, Complete duplication of thumb phalan... OMIM:227650
Cohen Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Clinodactyly of the 5th fi... ORPHA:193
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Tapered finger, Abnormality of skin pigmentation, Macrotia, Low-s... ORPHA:65286
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Dyskeratosis Congenita, Digenic
Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation OMIM:620040
Bone Marrow Failure Syndrome 3
Hearing impairment, Cupped ear, Abnormality of skin pigmentation, Metaphyseal dysplasia OMIM:617052
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Abnormality of skin pigmentation ORPHA:50814
Fanconi Anemia, Complementation Group D2
Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb, Hearing impairmen... OMIM:227646
Incontinentia Pigmenti
Absent hand, Irregular hyperpigmentation, Camptodactyly of finger, Deviation of finger, Abnormal ... ORPHA:464
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation ORPHA:56
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia involving bones of the hand, Abnormality of s... ORPHA:96176
Ablepharon Macrostomia Syndrome
Microtia, Camptodactyly of finger, Atresia of the external auditory canal, Abnormality of skin pi... ORPHA:920
Ring Chromosome 7 Syndrome
3-4 toe syndactyly, Hyperpigmented nevi, Clinodactyly of the 5th finger, Slender finger, Small ha... ORPHA:1449
Proteus Syndrome
Low-set ears, Abnormality of retinal pigmentation, Irregular hyperpigmentation, Clinodactyly of t... ORPHA:744
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormality of skin pigmentation, Short 4th metacarpal, Short 5th metaca... ORPHA:2908
Gardner Syndrome
Abnormality of skin pigmentation ORPHA:79665
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Absent thumb, Microtia, Partial duplication of thumb phalanx,... ORPHA:124
Familial Colorectal Cancer Type X
ORPHA:440437

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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