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Gene: Bloc1s3 MGI:2678952

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Gene Summary

Name:
biogenesis of lysosomal organelles complex-1, subunit 3
Synonyms:
BLOS3,  rp

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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.

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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.

Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Bloc1s3 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 Bloc1s3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077

The table below shows human diseases predicted to be associated to Bloc1s3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, M... OMIM:607624
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... OMIM:103500
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613265
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... OMIM:193510
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... ORPHA:2885
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin OMIM:610798
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... OMIM:601706
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:277580
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Low-frequency sensorineural hearing impairment, Abnormal natural killer cell physiology, Decrease... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Absent isohemagglutinin level, Increased circulating antibody level, Reduced natural ki... OMIM:615559
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Posteriorly rotated ears, Albinism, Reduced natural killer cell a... OMIM:608233
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Abnormality of chromosome stability OMIM:614082
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Ataxia-Telangiectasia
Abnormality of chromosome stability, Hypopigmentation of hair, Decreased circulating antibody lev... ORPHA:100
Obesity And Hypopigmentation
Red hair OMIM:620195
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism, Abnormal platelet aggregation OMIM:614171
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Sensorineural hearing impairment, Blue irides, Hypopigmented skin pa... OMIM:148820
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... ORPHA:3214
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Decreased circulating ... ORPHA:859
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613266
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Impaired collagen-in... OMIM:619172
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin... ORPHA:53271
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Sensorineural hearing impairment, Decreased circulating ant... ORPHA:540
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Revesz Syndrome
Abnormality of chromosome stability, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellul... OMIM:268130
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Impaired ADP-induced platelet aggregation, Ocular albinism, Albinism OMIM:614075
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Bone... ORPHA:3322
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Spotty... OMIM:210900
Squalene Synthase Deficiency
Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears OMIM:618156
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... OMIM:193500
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Silver-gray hair, Ocular alb... OMIM:214500
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm... ORPHA:163746
Vici Syndrome
Hypopigmentation of hair, Albinism, Decreased circulating IgG2 level, Sensorineural hearing impai... OMIM:242840
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... ORPHA:84064
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Iris hypopigmentation ORPHA:2719
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation ORPHA:90354

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 Bloc1s3

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 Bloc1s3.

No publications found that use IMPC mice or data for Bloc1s3.

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
Bloc1s3tm276712(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bloc1s3em1(IMPC)Bay Whole-gene deletion Mice
Bloc1s3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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