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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
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
decreased exploration in new environment Rps20em1(IMPC)Bay HET Early adult 1.30×10-05

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 right eye

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

VIP of left eye

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 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
Irritability, Memory impairment, Anxiety ORPHA:440437
Blackfan-Diamond Anemia
Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, Abnormality of the thenar emine... 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
Freckling, Multiple cafe-au-lait spots 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
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... 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
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Tietz Syndrome
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... 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
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation 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
Albinism, Red hair, Partial albinism OMIM:203290
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... OMIM:619947
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Ermine Phenotype
Sensorineural hearing impairment, Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentat... OMIM:227010
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
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
Hyperpigmentation of the skin, Short finger, Tapered finger OMIM:302000
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides, ... OMIM:103500
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Short distal phalanx of finger, Aplasia/Hypo... ORPHA:2513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... OMIM:601706
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... OMIM:300700
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... 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, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Ret... ORPHA:79397
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin OMIM:617294
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... 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
Sensorineural hearing impairment, Premature graying of hair, Albinism, White eyelashes, White eye... OMIM:193510
Waardenburg Syndrome, Type 4B
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Hypo... OMIM:613265
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Hypopigmented skin patches, Palm... ORPHA:2251
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
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin ORPHA:46487
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Spastic Paraplegia 23, Autosomal Recessive
Premature graying of body hair, Multiple lentigines, Vitiligo, Scapular winging, Hyperpigmentatio... OMIM:270750
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79402
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Abnormal ulnar metaphysis morpho... ORPHA:177910
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized hypopigmentation, Palmoplantar hyperkeratosis, Spotty hyperpigmentation, Hyperpigment... 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
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigmented skin patches ORPHA:220402
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation OMIM:225050
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Camptodactyly of toe, Clino... OMIM:300244
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin ORPHA:75563
Vogt-Koyanagi-Harada Disease
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Vitiligo... ORPHA:3437
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Prominent interdigital folds, Short 1st metacarpal, Short distal ph... 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
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
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
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines 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
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Watson Syndrome
Inguinal freckling, Multiple cafe-au-lait spots, Axillary freckling, Low-set ears, Posteriorly ro... OMIM:193520
Self-Improving Dystrophic Epidermolysis Bullosa
Mitten deformity, Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79411
Palmoplantar Keratoderma And Congenital Alopecia 1
Hyperpigmentation of the skin, Palmoplantar keratoderma OMIM:104100
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
X-Linked Recessive Ocular Albinism
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism ORPHA:54
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Freckling, Palmoplantar keratoderma, Hypomelanotic macule OMIM:618373
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Iris hypopigmentation, Hypopigmented skin patches, Hypopigmenta... ORPHA:3214
Carney Complex, Type 1
Red hair, Profuse pigmented skin lesions, Freckling, Multiple lentigines 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, Abnormality of skin pigmentation, Sandal gap, Brachydactyly ORPHA:2180
Porphyria
Abnormality of skin pigmentation, Dupuytren contracture ORPHA:738
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Waardenburg Syndrome
Abnormality of skin pigmentation, Conductive hearing impairment, Premature graying of hair, Hypop... ORPHA:3440
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Abnormality of skin pigmentation, Premature graying of hair, Abnormalit... ORPHA:1979
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Tapered finger, Generalized hyperpigmentation ORPHA:2930
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Abnormality of skin pigmentation, Palmoplantar cutis gyrata, Arachnodactyly ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation OMIM:612379
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hearing impairment, Protruding ear ORPHA:1806
Hennekam-Beemer Syndrome
Camptodactyly of finger, Irregular hyperpigmentation, Conductive hearing impairment, Abnormality ... ORPHA:2135
Cohen Syndrome
Abnormality of skin pigmentation, Sensorineural hearing impairment, Tapered finger, Aplasia/Hypop... ORPHA:193
Fanconi Anemia, Complementation Group A
Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete duplication of thumb ... OMIM:227650
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Abnormality of skin pigmentation, Acroost... ORPHA:2457
3Q29 Microdeletion Syndrome
Macrotia, Abnormality of skin pigmentation, Tapered finger, Clinodactyly of the 5th finger, Low-s... ORPHA:65286
Dyskeratosis Congenita, Digenic
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics OMIM:620040
Bone Marrow Failure Syndrome 3
Cupped ear, Abnormality of skin pigmentation, Hearing impairment OMIM:617052
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Abnormality of skin pigmentation ORPHA:50814
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot,... OMIM:227646
Alkaptonuria
Irregular hyperpigmentation, Abnormality of skin pigmentation ORPHA:56
Ring Chromosome 7 Syndrome
Small earlobe, Abnormality of skin pigmentation, Cafe-au-lait spot, Prominent crus of helix, Shor... ORPHA:1449
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Abnormality of skin pigmentation, Microtia, Toe syndactyly, Hearing impa... ORPHA:920
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Macrotia, Abnormality of skin pigmentation, Cafe-... ORPHA:96176
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormality of skin pigmentation, Short 4th metacarpal, Finger syndactyl... ORPHA:2908
Proteus Syndrome
Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Macrotia, Narro... ORPHA:744
Gardner Syndrome
Abnormality of skin pigmentation ORPHA:79665
Familial Colorectal Cancer Type X
Irritability, Memory impairment, Anxiety ORPHA:440437
Blackfan-Diamond Anemia
Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, Abnormality of the thenar emine... 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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