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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
Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Triphalangeal thumb,... ORPHA:124
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Partial duplication ... 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
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
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
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, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... 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
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Thrombocytopenia, Short thu... OMIM:600901
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Thrombocytopenia, Short thu... OMIM:227650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Ca... ORPHA:300298
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia, Triphalangeal thumb OMIM:615550
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Diamond-Blackfan Anemia 5
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Low-set ears OMIM:612528
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Thrombocytopenia, Short thu... OMIM:227645
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Tapered finger, Short finger, Abnormality of the nail, Hyperpigmentation of the... OMIM:302000
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Thrombocytopenia, Patent du... OMIM:227646
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... ORPHA:79402
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... ORPHA:89838
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment ORPHA:2222
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Patent ductus arteriosus, Reticulocytopenia, Microti... OMIM:613309
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail d... OMIM:131960
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Ri... ORPHA:2251
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to... OMIM:275350
Diamond-Blackfan Anemia
Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Triphalangeal thumb,... ORPHA:124
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... OMIM:601706
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Neutropenia OMIM:610798
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... OMIM:103500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Brachydactyly, Thrombocytopenia, Reticulocytopenia, Leukopenia, ... ORPHA:508542
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Syn... OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing... OMIM:194350
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis... ORPHA:177910
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613265
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin ORPHA:46487
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... ORPHA:2885
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista... ORPHA:2513
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Partial duplication ... OMIM:105650
Harderoporphyria
Splenomegaly, Hemolytic anemia, Hyperpigmentation of the skin, Reticulocytosis OMIM:618892
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Abcd Syndrome
White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Large for gestatio... OMIM:600501
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger... ORPHA:2930
Amed Syndrome, Digenic
Acute myeloid leukemia, Hyperpigmentation of the skin, Thrombocytopenia, Leukopenia, Long thumb, ... OMIM:619151
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Melanocytic nevus, Fre... ORPHA:1573
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Splenomegaly, Small n... OMIM:615631
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Hyperpigmentation of the skin ORPHA:75563
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71526
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism, Leukopenia OMIM:614171
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Decreased prop... OMIM:619846
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Palmoplantar k... ORPHA:218
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism OMIM:614072
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp... OMIM:104100
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Freckling, Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Palmoplantar keratoderma, ... ORPHA:79411
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... OMIM:129500
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Failu... OMIM:615387
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Brachydactyly, Single transverse palmar crease, Abnormality of hair ... OMIM:601957
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis, Hypopigmentation of the skin... ORPHA:158029
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Profuse pigmented skin lesions ORPHA:280785
Spastic Paraplegia 23, Autosomal Recessive
Scapular winging, Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-e... OMIM:270750
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... ORPHA:3322
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Failure to thrive, Hyperpigmentation of the skin, Bilateral single transv... ORPHA:50812
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Pancytopenia, Nail dystrophy OMIM:613988
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Hyperpigmentation of the skin OMIM:613313
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hy... ORPHA:158681
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premat... OMIM:613989
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Small for gestational age, Anemia of inadequate pr... OMIM:224120
Hemochromatosis, Type 3
Anemia, Lymphopenia, Hyperpigmentation of the skin, Neutropenia OMIM:604250
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Sensorineural hearing impairment, Ocular albinism, Hypo... ORPHA:999
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Abnormality of skin pigmentation, Low-set ears, Failure to thrive, Hypertrichosis OMIM:612379
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Pancytopenia, Nail dystrophy, Thrombocytopenia OMIM:613987
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Splenomegaly, Abnormality of skin pigmentation, Abnormality of the ... ORPHA:834
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Abnormality of skin pigmentation, Premature gray... ORPHA:1979
Glucocorticoid Deficiency 1
Failure to thrive, Generalized hyperpigmentation, Hyperpigmentation of the skin OMIM:202200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigmented skin patches ORPHA:220402
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Cafe-au-lait spot, Hypop... OMIM:618541
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hearing impairment ORPHA:457260
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na... ORPHA:140936
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Nail dystrophy, ... OMIM:618373
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Sensorineural hearing impairm... ORPHA:53271
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli... ORPHA:69087
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hyperpigmentation of the skin, Cachexia, Clubbing, Clubbing of fingers, Nail dystrophy,... OMIM:175500
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Pterygium o... OMIM:224230
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Na... OMIM:620040
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Obesity, Abnormality of skin pigmentation, Low-set ears, Brachydactyly ORPHA:2180
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Avascular necrosis of the... OMIM:613990
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Fanconi Anemia, Complementation Group F
Failure to thrive, Absent thumb, Thrombocytopenia, Patent ductus arteriosus, Short thumb, Hypopla... OMIM:603467
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... OMIM:214500
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Breast hypoplasia,... ORPHA:978
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Fanconi Anemia, Complementation Group P
Pancytopenia, Absent thumb, Short thumb, Hypoplasia of the radius, Vitiligo, Cafe-au-lait spot, A... OMIM:613951
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... ORPHA:3214
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Cohen Syndrome
Low anterior hairline, Abnormality of skin pigmentation, Neutropenia, Clinodactyly of the 5th fin... ORPHA:193
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Sparse eyebrow, Palmoplantar cutis... ORPHA:75496
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Protruding ear, Abnormality of skin pigmentation, Fine hair, Spar... ORPHA:1806
Squalene Synthase Deficiency
Failure to thrive in infancy, Posteriorly rotated ears, Elbow flexion contracture, Abnormality of... OMIM:618156
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Splenomegaly ORPHA:1414
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigment... OMIM:268130
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... OMIM:308300
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Mastocytosis, Camptodactyly of finger, Abnormality of skin pigment... ORPHA:2135
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Erythroid hyperplasi... ORPHA:79277
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
3Q29 Microdeletion Syndrome
Tapered finger, Patent ductus arteriosus, Macrotia, Abnormality of skin pigmentation, Low-set ear... ORPHA:65286
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Hypopl... ORPHA:235
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Small for gestational age, I... ORPHA:84064
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:182900
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Incontinentia Pigmenti
Finger syndactyly, Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Eosinophilia... ORPHA:464
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hemolytic anemia, Thrombocytopenia, Splenomegaly, Loss of eyelashes, Jo... OMIM:263700
Gastrointestinal Stromal Tumor
Large hands, Hyperpigmentation of the skin OMIM:606764
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mandibuloacral Dysplasia
Alopecia, Abnormality of skin pigmentation, Osteolytic defects of the distal phalanges of the han... ORPHA:2457
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis OMIM:232800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatocellular ... OMIM:618278
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Low-set ears ORPHA:2522
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Thrombocytopenia, Splenomegaly, Anemia,... ORPHA:699
Degcags Syndrome
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... OMIM:619488
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Fanconi Anemia
Abnormal femur morphology, Abnormality of skin pigmentation, Leukopenia, Triphalangeal thumb, Cli... ORPHA:84
Focal Dermal Hypoplasia
Finger syndactyly, Alopecia, Toe syndactyly, Coarse metaphyseal trabecularization, Abnormal palma... ORPHA:2092
Ablepharon Macrostomia Syndrome
Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes,... ORPHA:920
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Hurler Syndrome
Camptodactyly of finger, Splenomegaly, Abnormality of the elbow, Abnormality of skin pigmentation... ORPHA:93473
Abetalipoproteinemia
Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Talipes equinovarus, Failur... ORPHA:14
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentia... OMIM:133540
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Highly arched eyebrow, Prominent crus of helix, Low anterior hai... ORPHA:1449
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Anemia, Palmoplanta... ORPHA:2908
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Abnormality of hair pigmentation... ORPHA:90354
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Proteus Syndrome
Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Clinodactyly... ORPHA:744
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Posteriorly rotated ears, Aplasia/hypoplasia involving... ORPHA:96176
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Retinal pigment epithel... OMIM:216400
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Abnormality of skin pigmentation, Acute lymphoblastic leukemia... ORPHA:1052
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Abnormal earlobe morphology, Hy... ORPHA:2556
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Chronic Graft Versus Host Disease
Alopecia, Pancytopenia, Weight loss, Abnormality of skin pigmentation, Onycholysis, Nail dystrophy ORPHA:99921
Gardner Syndrome
Abnormality of skin pigmentation, Pilomatrixoma ORPHA:79665
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... 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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