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Gene: Rps19 MGI:1333780

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ribosomal protein S19
Synonyms:
Dsk3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rps19 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 Rps19 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macrocytic dyserythropoietic a... ORPHA:124
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Triphalangeal thumb, Ma... OMIM:105650

The table below shows human diseases predicted to be associated to Rps19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Dowling-Degos Disease 3
Palmar pits, Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
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
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Cafe-au-lait spot, Hearin... OMIM:600901
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Cafe-au-lait spot, Abnormality of skin pigmentation, Hea... OMIM:227650
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Osteopathia striata, White foreloc... ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Diamond-Blackfan Anemia 12
Triphalangeal thumb, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocy... OMIM:615550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Cafe-au-lait spot, Dysplastic erythropoesis, Hepa... ORPHA:300298
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Low-set ears, Leukopenia OMIM:612528
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Cafe-au-lait spot, Hearin... OMIM:227645
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Bullous Dystrophy, Hereditary Macular Type
Short finger, Hyperpigmentation of the skin, Abnormality of the nail, Alopecia totalis, Tapered f... OMIM:302000
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Fanconi Anemia, Complementation Group D2
Anemia, Patent ductus arteriosus, Pancytopenia, Low-set ears, Reticulocytopenia, Cafe-au-lait spo... OMIM:227646
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body... ORPHA:79402
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Microtia, Low-set ears, Reticulocytopenia, Hearing impairment, Atresia... OMIM:613309
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Protruding ear, Palmoplantar keratoderma, Triphalangeal thumb, Hyperp... ORPHA:2251
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Failure to thri... OMIM:275350
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macrocytic dyserythropoietic a... ORPHA:124
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... OMIM:601706
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Neutropenia OMIM:610798
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Short metacarpal, Rhizomelic arm shortening, Hearin... ORPHA:508542
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar... ORPHA:177910
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, F... OMIM:557000
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613265
Epidermolysis Bullosa Acquisita
Nail dystrophy, Abnormal hair morphology, Hyperpigmentation of the skin ORPHA:46487
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:2885
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo... ORPHA:2513
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Triphalangeal thumb, Ma... OMIM:105650
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Harderoporphyria
Reticulocytosis, Splenomegaly, Hemolytic anemia, Hyperpigmentation of the skin OMIM:618892
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Hearing impairment, Polycythemia,... OMIM:600501
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Anemia, Cachexia, Dystrophic toenail, ... ORPHA:2930
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Hyperpigmentation of the skin, Failure to thrive, Thrombocytopeni... OMIM:619151
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti, Abnormal li... ORPHA:1573
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Hyperpigmentation of the skin ORPHA:75563
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Small nail, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosi... OMIM:615631
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71526
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Hypopigmentation of the skin, Leukopenia, Ocular albinism OMIM:614171
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Vitiligo, Decreased proportio... OMIM:619846
Immunodeficiency 7
Autoimmune hemolytic anemia, Recurrent otitis media, Patchy alopecia, Failure to thrive, Vitiligo... OMIM:615387
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig... ORPHA:218
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Abnormal... ORPHA:3437
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Freckling, Hypoplastic toenails ORPHA:1547
Clouston Syndrome
Nail dysplasia, Abnormality of the hand, Nail dystrophy, Brittle hair, Small nail, Absent pubic h... OMIM:129500
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal... OMIM:601957
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Iris hypopig... ORPHA:79477
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytop... ORPHA:158029
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Premature graying of body hair, Scapular winging, Vitiligo, Hyperpigmentatio... OMIM:270750
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions, Cutaneous mastocytosis ORPHA:280785
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Low-set ears, Camptodactyly of toe, Ab... OMIM:300244
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha... ORPHA:3322
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Bilateral single transverse palmar creases, Hyperpigmentation of the skin, Brittle hair, Failure ... ORPHA:50812
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia OMIM:613988
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Hyperpigmentation of the skin OMIM:613313
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:237800
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Enl... ORPHA:79414
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f... OMIM:613989
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Abnormality of skin pigmentation, Failure to thrive, Sparse hair, Alopecia OMIM:616353
Obesity And Hypopigmentation
Obesity, Red hair OMIM:620195
Hemochromatosis, Type 3
Neutropenia, Lymphopenia, Anemia, Hyperpigmentation of the skin OMIM:604250
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm... ORPHA:999
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation, Failure to thrive, Microcytic anemia, Hypertrichosis OMIM:612379
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Thrombocytopenia, Reticulated skin pigmentation, Pancytopenia OMIM:613987
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Cachexia, Abnormality of the upper limb, Abn... ORPHA:1979
Glucocorticoid Deficiency 1
Generalized hyperpigmentation, Failure to thrive, Hyperpigmentation of the skin OMIM:202200
Free Sialic Acid Storage Disease
Abnormality of the upper limb, Abnormality of skin pigmentation, Iris hypopigmentation, Splenomeg... ORPHA:834
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation, Joint contracture of the hand ORPHA:220402
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Hearing impairmen... ORPHA:897
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Deafness, Congenital, With Vitiligo And Achalasia
Hearing impairment, Vitiligo OMIM:221350
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g... ORPHA:626
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper... ORPHA:140936
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un... ORPHA:701
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Single transverse palmar crease, Hypopigmentation of the skin, Cafe-au-... OMIM:618541
Autosomal Recessive Spastic Paraplegia Type 23
Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Abnormality of skin pigmentation ORPHA:457260
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Fre... OMIM:618373
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, S... ORPHA:53271
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Decreased number of sweat glands, Palmoplantar hyperkeratosis, Dystrophic toenail... ORPHA:69087
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Hyperpigmentation of the skin, Clubbing of fingers, Cache... OMIM:175500
Dyskeratosis Congenita, Digenic
Nail dystrophy, Anemia, Sparse eyelashes, Abnormality of skin pigmentation, Abnormal palmar derma... OMIM:620040
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Nail dystrophy, Small nail, Hyperpigmentation of the skin, Pancytopenia, Palmopl... OMIM:224230
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Anemia, Patent ductus arteriosus, Hyperpigmentation of the skin, Microt... OMIM:603467
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Low-set ears, Abnormality of skin pigmentation, Obesity, Brachydactyly ORPHA:2180
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Finger syndactyly, Hypoplastic nip... ORPHA:978
Chediak-Higashi Syndrome
Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati... OMIM:214500
Fanconi Anemia, Complementation Group P
Hypoplasia of the radius, Anemia, Pancytopenia, Cafe-au-lait spot, Hearing impairment, Absent thu... OMIM:613951
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Sensorineura... ORPHA:3214
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemoly... OMIM:611590
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Neutropenia, Anemia, ... OMIM:613990
Cohen Syndrome
Sandal gap, Sensorineural hearing impairment, Arachnodactyly, Neutropenia, Abnormality of retinal... ORPHA:193
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Sparse scalp hair, Sparse eyelashes, Abnormality of skin pigmentation,... ORPHA:75496
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... OMIM:235700
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair... ORPHA:1806
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Splenomegaly ORPHA:1414
Spherocytosis, Type 2
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Squalene Synthase Deficiency
2-3 toe syndactyly, Elbow flexion contracture, Low-set ears, Abnormality of hair pigmentation, Ma... OMIM:618156
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Nail pits, Ridged fingernail, Sparse hair, Fi... OMIM:268130
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Clinodactyly of the 5th finger, Microtia, Mastocytosis, Hearing impa... ORPHA:2135
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis OMIM:611490
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Low-set ears, Abnormality of skin pigmentation, Macrotia, Failure... ORPHA:65286
Dubowitz Syndrome
Sandal gap, Broad thumb, Abnormality of thumb phalanx, Fine hair, Low-set, posteriorly rotated ea... ORPHA:235
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Syndromic Diarrhea
Trichorrhexis nodosa, Patent ductus arteriosus, Hypopigmentation of hair, Brittle hair, Generaliz... ORPHA:84064
Congenital Erythropoietic Porphyria
Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Hypopigmentation of... ORPHA:79277
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation... OMIM:263700
Spherocytosis, Type 1
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Incontinentia Pigmenti
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Abnormal hair mo... ORPHA:464
Gastrointestinal Stromal Tumor
Large hands, Hyperpigmentation of the skin OMIM:606764
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Mandibuloacral Dysplasia
Hypoplastic fingernail, Osteolytic defects of the distal phalanges of the hand, Abnormality of sk... ORPHA:2457
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Brittle hair, Abnormality of skin pigmentation, Sparse hair, Coars... ORPHA:50814
Hereditary Elliptocytosis
Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, Congenital hemolyt... ORPHA:288
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip... OMIM:618278
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero... ORPHA:822
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress... OMIM:194380
Degcags Syndrome
Premature graying of hair, Sensorineural hearing impairment, Hypopigmentation of the skin, Abnorm... OMIM:619488
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Low-set ears ORPHA:2522
Pearson Syndrome
Anemia, Hyperpigmentation of the skin, Pancytopenia, Reticulocytosis, Cafe-au-lait spot, Hearing ... ORPHA:699
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Fanconi Anemia
Irregular hyperpigmentation, Abnormal femur morphology, Abnormal pinna morphology, Abnormality of... ORPHA:84
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertr... ORPHA:2330
Focal Dermal Hypoplasia
Patent ductus arteriosus, Abnormality of the nail, Finger syndactyly, Low-set ears, Split hand, H... ORPHA:2092
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Absent eyelashes, Microtia, Absent eyebrow, Hearing impairment, Abnormality of... ORPHA:920
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:235400
Hurler Syndrome
Abnormal diaphysis morphology, Hearing impairment, Abnormality of skin pigmentation, Camptodactyl... ORPHA:93473
Abetalipoproteinemia
Anemia, Reticulocytosis, Failure to thrive, Abnormality of retinal pigmentation, Acanthocytosis, ... ORPHA:14
Cockayne Syndrome B
Severe failure to thrive, Abnormal hair morphology, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Fine hair, Lip hyperpigmentation, Frontal balding ORPHA:139399
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Anemia, Finger syndactyly, Abnormality of skin pigmentation, Abnormal toena... ORPHA:2908
Ring Chromosome 7 Syndrome
Genu valgum, Clinodactyly of the 5th finger, Hyperpigmented nevi, Highly arched eyebrow, Small ea... ORPHA:1449
Brittle Cornea Syndrome
Sensorineural hearing impairment, Abnormality of hair pigmentation, Camptodactyly, Conductive hea... ORPHA:90354
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:216400
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Absent foot, Caf... ORPHA:96176
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormality of the upper limb,... ORPHA:1052
Alkaptonuria
Irregular hyperpigmentation, Abnormality of the nail, Abnormality of skin pigmentation, Hemolytic... ORPHA:56
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis ORPHA:90038
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormal earlobe morphology, Hyperpigmentation of the skin, Abnormali... ORPHA:2556
Proteus Syndrome
Irregular hyperpigmentation, Macrodactyly, Cachexia, Abnormal finger morphology, Upper limb asymm... ORPHA:744
Chronic Graft Versus Host Disease
Nail dystrophy, Pancytopenia, Abnormality of skin pigmentation, Onycholysis, Weight loss, Alopecia ORPHA:99921
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu... ORPHA:447
Gardner Syndrome
Abnormality of skin pigmentation, Pilomatrixoma ORPHA:79665
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Ungual fibroma ORPHA:538
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis, Leukopeni... ORPHA:99826

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 Rps19

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 Rps19.

No publications found that use IMPC mice or data for Rps19.

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
Rps19tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rps19tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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