Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mago homolog, exon junction complex core component
Synonyms:
Mos2,  Mago-m

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Magoh 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
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
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides OMIM:103500
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71526
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo... ORPHA:1816
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Phenylketonuria
Hypopigmentation of the skin ORPHA:716
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Hypopigmentation of the skin, Agenesis of corpus callosum ORPHA:261519
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Infantile Sialic Acid Storage Disease
Fair hair, Hydrocephalus, Hypopigmentation of the skin, Failure to thrive OMIM:269920
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation OMIM:261600
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Abdominal obesity OMIM:615980
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis ORPHA:525
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge... ORPHA:1867
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Vici Syndrome
Hypopigmentation of the skin, Abnormality of retinal pigmentation, Agenesis of corpus callosum, G... ORPHA:1493
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule OMIM:618373
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Slc35A2-Cdg
Hypopigmentation of the skin, Lateral ventricle dilatation, Failure to thrive in infancy, Intraut... ORPHA:356961
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh... OMIM:611584
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp... ORPHA:79145
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Alg3-Cdg
Hypopigmentation of the skin, Neural tube defect ORPHA:79321
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Curry-Jones Syndrome
Generalized hirsutism, Hypopigmented skin patches, Agenesis of corpus callosum ORPHA:1553
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ... OMIM:300860
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary ... OMIM:276300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Brittle hair OMIM:236200
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Freckling OMIM:278720
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Generalized hypopigmentation, Decreased body weight OMIM:617306
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Generalized hypopigmentation, White hair, Ocular albinism ORPHA:2720
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi... OMIM:614077
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Failure to thrive, Obesity, Delayed puberty,... ORPHA:98754
Intellectual Disability And Myopathy Syndrome
Spotty hypopigmentation, Cafe-au-lait spot OMIM:619719
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation... ORPHA:79396
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Failure to thrive, Obesity, Delayed puberty,... ORPHA:98793
Porphyria Variegata
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:79473
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Pachygyria, Intrauterine growth retardation, Abnormality of neurona... OMIM:251300
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Cachexia, Multiple cafe-au-lait spots, Ge... ORPHA:1969
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Failure to thrive, Obesity, Delayed puberty,... ORPHA:177904
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Lateral ventricle dilatation, Intrauterine g... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Failure to thrive, Obesity, Delayed puberty,... ORPHA:177901
Pontocerebellar Hypoplasia, Type 7
Hirsutism, Hypopigmentation of the skin, Synophrys OMIM:614969
Crouzon Syndrome
Hypopigmented skin patches, Hydrocephalus, Melanocytic nevus ORPHA:207
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:3453
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Porphyria Cutanea Tarda
Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:101330
Vici Syndrome
Albinism, Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Postnatal growth reta... OMIM:242840
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Bloom Syndrome
Hypopigmentation of the skin, Postnatal growth retardation, Intrauterine growth retardation, Spot... OMIM:210900
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches, Agenesis of corpus callosum ORPHA:96061
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai... ORPHA:678
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obesity, Hypopigmentation of ... ORPHA:398079
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys ORPHA:1295
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Cafe-au-lait spot, Hypopigmented skin patches, Polymicrogyria ORPHA:457485
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... OMIM:263700
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Weight loss, Failure to thrive ORPHA:47
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Angelman Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Fair hair ORPHA:72
Prader-Willi Syndrome
Hypopigmentation of the skin, Failure to thrive, Abdominal obesity, Short stature, Hypopigmentati... ORPHA:739
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination defect, A... OMIM:614075
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... ORPHA:2909
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Increased body weight, Abdominal obesity, Short ... ORPHA:398069
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Hydrocephalus, Polymicrogyria ORPHA:1647
Harrod Syndrome
Intrauterine growth retardation, Failure to thrive, Hypopigmented skin patches ORPHA:2115
Hermansky-Pudlak Syndrome 2
Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism OMIM:608233
Ruvalcaba Syndrome
Generalized hirsutism, Hypopigmented skin patches ORPHA:3121
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h... OMIM:222470
Bloom Syndrome
Hypopigmentation of the skin, Intrauterine growth retardation, Severe postnatal growth retardatio... ORPHA:125
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ... ORPHA:464
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypopigmented skin patches, Intrauterine growth retardation, Mult... ORPHA:2637
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221008
Koolen-De Vries Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Fair hair, Postnatal growth retardation, Slender build, Vitiligo, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypopigmentation of the skin, Fair hair, Postnatal growth retardation, Slender build, Vitiligo, A... ORPHA:363958
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Mucolipidosis Ii Alpha/Beta
Hypopigmentation of the skin, Myelopathy, Failure to thrive, Umbilical hernia, Severe postnatal g... OMIM:252500
Prader-Willi Syndrome
Class III obesity, Failure to thrive in infancy, Intrauterine growth retardation, Obesity, Delaye... OMIM:176270
Localized Scleroderma
Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm... ORPHA:90289
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221016
Dyskeratosis Congenita
Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal fingernail ... ORPHA:1775
Gapo Syndrome
Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding ORPHA:2067
Rothmund-Thomson Syndrome, Type 3
Spotty hypopigmentation, Small for gestational age, Spotty hyperpigmentation, Decreased body weight OMIM:615789
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Failure to thrive, Intrauterine growth retardation, Obesity, Melano... OMIM:619475
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal... ORPHA:95159
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Infantile Krabbe Disease
Cachexia, Failure to thrive, Hypopigmented skin patches ORPHA:206436
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,... OMIM:604292
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati... ORPHA:1896
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... OMIM:305600
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Failure to thrive, Retinal pigment epitheli... OMIM:219800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Hypopigmentation of the skin, Umbilical hernia OMIM:301066
Fanconi Anemia
Irregular hyperpigmentation, Hypopigmented skin patches, Umbilical hernia, Intrauterine growth re... ORPHA:84
Chromomycosis
Hypopigmented skin patches ORPHA:182
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Hypopigmented skin patches ORPHA:183
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes OMIM:609136
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal... ORPHA:79277
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Hydrocephalus, Generalized hypopigmentation, Abdominal obesity, ... OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Disproportiona... OMIM:210720
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Low posterior hai... ORPHA:233
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Dyst... ORPHA:2907
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Failure to thrive, Hypopigmented skin patches, Abnormality of retinal pigme... ORPHA:2556
Xeroderma Pigmentosum
Hypopigmented skin patches, Failure to thrive, Melanocytic nevus, Freckling, Hypermelanotic macule ORPHA:910
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h... ORPHA:163956
Mosaic Trisomy 20
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Neurofibromatosis Type 1
Inguinal freckling, Hypopigmented skin patches, Melanocytic nevus, Generalized hyperpigmentation,... ORPHA:636
22Q11.2 Deletion Syndrome
Failure to thrive, Hypopigmented skin patches, Umbilical hernia, Intrauterine growth retardation,... ORPHA:567
Pitt-Hopkins Syndrome
Postnatal growth retardation, Hypopigmented skin patches, Growth delay, Failure to thrive ORPHA:2896
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms OMIM:607944
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Umbilical hernia, Delayed puberty, Generalized hypopigmentation, Short stature ORPHA:534
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Hypopigmentation of the skin, Nail dystrophy, Hyperpigmentation of the skin, Anonychia ORPHA:95455
Systemic Sclerosis
Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia ORPHA:90291
Mend Syndrome
Short stature, Hydrocephalus, Spotty hypopigmentation, Failure to thrive ORPHA:401973
Mend Syndrome
Short stature, Hydrocephalus, Spotty hypopigmentation, Failure to thrive OMIM:300960
Cowden Syndrome
Hypopigmented skin patches, Multiple cafe-au-lait spots, Failure to thrive, Melanocytic nevus ORPHA:201
Sarcoidosis
Hypopigmentation of the skin, Weight loss, Hyperpigmentation of the skin ORPHA:797
Kindler Syndrome
Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation OMIM:173650
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Pallister-Killian Syndrome
Hyperpigmented streaks, Rhizomelia, Hypopigmentation of the skin, Umbilical hernia, Obesity, Meso... OMIM:601803
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation ORPHA:3063
Sotos Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin, Patent ductus arteriosus, Umbilical ... ORPHA:821

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 Magoh

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 Magoh.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Prolonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain. Neuron (January 2016) Magohtm1c(KOMP)Dlsi PMC4706996
Generation of a Magoh conditional allele in mice. Genesis (New York, N.Y. : 2000) (May 2014) Magohtm1a(KOMP)Dlsi Magohtm1c(KOMP)Dlsi Magohtm1d(KOMP)Dlsi PMC4111959

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
Magohtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Magohtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Magohtm49410(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Magohtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Magohtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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