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Gene: Hps6 MGI:2181763

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Gene Summary

Name:
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms:
ru,  BLOC-2,  5330434M19Rik,  ruby eye,  Hermansky-Pudlak syndrome 6

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Hps6em1(IMPC)Tcp HOM   Early adult 4.98×10-05
decreased body length Hps6em1(IMPC)Tcp HOM Early adult 1.24×10-06
abnormal coat/hair pigmentation Hps6em1(IMPC)Tcp HOM Early adult 3.53×10-19
abnormal retina morphology Hps6em1(IMPC)Tcp HOM Early adult 3.69×10-14
abnormal eye morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
small spleen Hps6em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
mydriasis Hps6em1(IMPC)Tcp HOM Early adult 6.11×10-11
small thymus Hps6em1(IMPC)Tcp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

139 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

9 Images

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Human diseases caused by Hps6 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 Hps6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075

The table below shows human diseases predicted to be associated to Hps6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Book Syndrome
Premature graying of hair OMIM:112300
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
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
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
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
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormal retinal morphology,... ORPHA:170
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Splenomegaly, Leukoc... OMIM:259720
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Obesity And Hypopigmentation
Red hair OMIM:620195
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Intestinal Botulism
Dysphagia, Mydriasis ORPHA:178481
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Toxin-Mediated Infectious Botulism
Dysphagia, Mydriasis ORPHA:230800
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Cataract, Hirsutism ORPHA:85288
Iatrogenic Botulism
Dysphagia, Mydriasis ORPHA:254509
Wound Botulism
Dysphagia, Mydriasis ORPHA:178475
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Infant Botulism
Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis ORPHA:178478
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Botulism
Dysphagia, Mydriasis ORPHA:1267
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Pituitary Apoplexy
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... ORPHA:95613
Foodborne Botulism
Dysphagia, Mydriasis ORPHA:228371
Morm Syndrome
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Serotonin Syndrome
Restlessness, Agitation, Mydriasis ORPHA:43116
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysplasia, Short... OMIM:619727
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... OMIM:261600
Alazami-Yuan Syndrome
Thick eyebrow, Hyperactivity, Broad hallux, Highly arched eyebrow, Cryptorchidism, Synophrys, Low... OMIM:617126
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc... ORPHA:54
Miller Fisher Syndrome
Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Inhalational Botulism
Mydriasis ORPHA:254504
Alternating Hemiplegia Of Childhood
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Thin eyebrow, Dysphagia, M... ORPHA:2131
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hyperactivity, Cryptorchidism, Short metatarsal, Advanced ossification of carpa... OMIM:614613
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
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
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... ORPHA:2969
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Retinal infarction, Mydriasis OMIM:613834
Arachnoid Cyst
Disinhibition, Mydriasis ORPHA:2356
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Gand Syndrome
Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter, Sparse hair OMIM:615074
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Rocker bottom foot, Dysphagia, Hypoplastic spleen, Adducted thumb ORPHA:89844
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Thickened ribs, Splenomegaly, Synophrys, Coarse hair, Dysphagia, Rod... OMIM:252930
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Thickened ribs, Aggressive behavior, Splenomegaly, Synophrys, Coarse... OMIM:252920
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutila... OMIM:615516
2Q23.1 Microdeletion Syndrome
Hyperactivity, Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of... ORPHA:228402
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Revesz Syndrome
Aplastic anemia, Leukocoria, Nail pits, Fine hair, Exudative retinopathy, Bone marrow hypocellula... OMIM:268130
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Hypoplastic spleen, Brachyda... OMIM:602361
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Short Syndrome
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... ORPHA:3163
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Cocaine Intoxication
Agitation, Mydriasis ORPHA:90068
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di... ORPHA:233
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Thickened ribs, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Scorpion Envenomation
Restlessness, Acute pancreatitis, Miosis, Mydriasis ORPHA:466677
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Fg Syndrome 3
Hyperactivity, Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Bro... OMIM:300406
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... OMIM:214500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Mydriasis OMIM:619351
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq... OMIM:620141
Plague
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Conjunctival... ORPHA:707
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... ORPHA:2119
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... ORPHA:411511
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect... OMIM:618727
Trisomy 9P
Brachydactyly, Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Clinodactyl... ORPHA:236
Nephronophthisis 11
Anisocoria, Anemia, Hepatic fibrosis, Polydipsia, Retinal degeneration OMIM:613550
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Sparse eyelashes, Cataract, Fifth finger distal phalanx clinodactyly, 4-5 finge... OMIM:257850
Brittle Cornea Syndrome
Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormalit... ORPHA:90354
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Alagille Syndrome
Keratoconus, Hypoplasia of the ulna, Hepatomegaly, Corneal dystrophy, Cryptorchidism, Abnormal pu... ORPHA:52
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria, Short lower limbs, Bowing of the legs OMIM:219250
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat... ORPHA:98794
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Short foot, Anterior synechiae of... ORPHA:96125
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Neutropenia... OMIM:617052
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Stormorken Syndrome
Howell-Jolly bodies, Miosis, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Alexander Disease
Microcoria OMIM:203450
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... OMIM:229200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... ORPHA:2714
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... ORPHA:79098
Squalene Synthase Deficiency
Optic nerve hypoplasia, Bilateral cryptorchidism, 2-3 toe syndactyly, Abnormality of hair pigment... OMIM:618156
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... OMIM:267750
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Keratitis, Corneal scarring, Nail dystrophy, Nail dysplasia, Re... OMIM:256800
Mucopolysaccharidosis Type 3
Adenoiditis, Synophrys, Coarse hair, Generalized hirsutism, Retinal degeneration, Hepatomegaly, H... ORPHA:581
Familial Dysautonomia
Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Opti... ORPHA:1764
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Compulsive ... ORPHA:534
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... ORPHA:79430
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Adult Syndrome
Sparse scalp hair, Absent nipple, Sparse axillary hair, Nail pits, Alopecia of scalp, Hypoplastic... OMIM:103285
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Abnormal thumb morphology, C... ORPHA:2719
Prader-Willi Syndrome
Syndactyly, Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryp... OMIM:176270
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Overlapping toe, Decreased response to growth hormone stimulation test,... ORPHA:177907
Mirage Syndrome
Rocker bottom foot, Cryptorchidism, Thrombocytopenia, Radial club hand, Leukopenia, Overlapping f... OMIM:617053
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Split hand, Anisocoria, Hammertoe, Tonic pupil, Slow pupillary light r... ORPHA:90658
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... ORPHA:649
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Small hand, Polyphagia, Short foot, Hip dysplasia, Chor... ORPHA:398079
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape, Sl... ORPHA:45358
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177901
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Cataract, Sparse axillary hair, Sparse pubic hair, 3-4 finger cutaneous syndac... OMIM:181270
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impulsivity, Cryptorchidism, Small hand, Polyphagia, Short foot, Hip dy... ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:98754
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio... ORPHA:167
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocor... ORPHA:790
Vici Syndrome
Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Dysphagia, Develo... OMIM:242840
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyelashes, 3-4 fi... OMIM:615877
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Hepatoblastoma, Increased mean platelet vol... ORPHA:84064
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... ORPHA:863
Wolf-Hirschhorn Syndrome
Hyperconvex fingernails, Abnormal repetitive mannerisms, Iris coloboma, Accessory spleen, Pseudoe... OMIM:194190
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia, Pinea... OMIM:180200
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy... OMIM:180500
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture, Cryptorchidism, ... ORPHA:96169
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Highly arched eyebrow, Cryptorchidism, 2-3... OMIM:618653
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Optic atrophy, Hyperpigmentation of the skin OMIM:231550
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal op... ORPHA:99949
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Retinal detachment, Toe syndactyly, Leukocoria, Multiple cafe-au-lait spots, S... ORPHA:1556
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Metaphyseal wide... OMIM:219800
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Facial Spasm
Anisocoria OMIM:134300
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Clinodactyly,... OMIM:613406
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Sclerocornea, Iris coloboma, Finger syndactyly, Abnormal eyelash mor... ORPHA:818
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, High anterior hairline, Dysphagia OMIM:615510
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Prader-Willi Syndrome
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryptorchidism, ... ORPHA:739
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Le... OMIM:619488
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Abnormal repetitive m... ORPHA:261552
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Highly arched eyebrow, ... OMIM:303600
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Craniorachischisis
Bifid sternum ORPHA:63260
Superficial Siderosis
Anisocoria ORPHA:247245
Mowat-Wilson Syndrome
Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal colo... OMIM:235730
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Congenital hip dislocation, Abnormality of hair texture, Abnormal eyelash ... ORPHA:286

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term growth arrest Hps6em1(IMPC)Tcp HOM Early adult

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 Hps6.

No publications found that use IMPC mice or data for Hps6.

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
Hps6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hps6em1(IMPC)Tcp Intra-exon deletion Mice
Hps6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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