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:
Mago-m,  Mos2

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
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
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
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
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
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Subcortical cerebral atrophy, Cerebral corti... ORPHA:33445
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Abnormal toenail ... ORPHA:89838
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopigmentation, A... ORPHA:69125
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Cerebral calcification, Partial alb... ORPHA:79476
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Hyperpigmenta... ORPHA:2251
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Absent eyelashes, Sparse hair, Spotty hypopigmentation, Sparse lateral eye... ORPHA:79133
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Red hair, Growth delay, Pituitary hypothyroidism, Obesity, Delayed puber... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Red hair, Growth delay, Pituitary hypothyroidism, Obesity, Delayed puber... ORPHA:71526
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Sparse hair, Alopecia, Microcephaly, Nail dystrophy OMIM:616353
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism ORPHA:2222
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Hypoplasia of the corpus callosum, Microcephaly, Generalized hypopigmentation OMIM:615075
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebro... ORPHA:1816
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Cessation of head growth, Hypopigmentation of th... ORPHA:411515
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Phenylketonuria
Fair hair, Cerebral calcification, Microcephaly, Generalized hypopigmentation, Blue irides OMIM:261600
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Synophrys, Hypopigmented skin patches, White for... OMIM:148820
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Al-Raqad Syndrome
Microcephaly, Hypopigmentation of the skin OMIM:616459
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Low posterior hairline, Agenesis of corpus callosum, Hypopigmentation of the skin ORPHA:261519
Menkes Disease
Sparse hair, Microcephaly, Hypopigmentation of the skin OMIM:309400
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy, Abnormality of hair texture OMIM:601957
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Microcephaly, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cerebral atrophy, Fair hair, Failure to thrive, Hypopigmentation of the skin OMIM:269920
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin OMIM:614171
Classic Phenylketonuria
Microcephaly, Hypopigmentation of hair, Cerebral calcification, Hypopigmentation of the skin ORPHA:79254
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Cerebral cortical atrophy, Cerebral calcification, Hypopigmented s... ORPHA:2875
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow, Sparse lower eyelashes, Multiple cafe... ORPHA:1807
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Oculocerebral Hypopigmentation Syndrome Of Preus
Generalized hypopigmentation OMIM:257790
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Abnormal hair whorl, Spotty hypopigmentation, Hirs... OMIM:300860
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly... ORPHA:98795
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Carney Complex, Type 1
Freckling, Elevated circulating growth hormone concentration, Red hair, Hirsutism, Profuse pigmen... OMIM:160980
Classic Mycosis Fungoides
Irregular hyperpigmentation, Alopecia, Abnormality of the nail, Hypopigmented skin patches ORPHA:2584
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:158029
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Vici Syndrome
Abnormality of retinal pigmentation, Gray matter heterotopia, Cerebral cortical atrophy, Short st... ORPHA:1493
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Spotty hypopigmentation, Hyperpigmentation of the ski... ORPHA:1867
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... ORPHA:626
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenocorticotropic hormone deficiency, Red hair, Decreased response to growth hormone stimuation... OMIM:609734
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly... ORPHA:411511
Vici Syndrome
Hypopigmentation of hair, Albinism, Gray matter heterotopia, Growth delay, Ocular albinism, Failu... OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613988
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Lichen Planopilaris
Abnormal fingernail morphology, Onycholysis, Alopecia, Hypopigmented skin patches ORPHA:525
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Silver-gray hair, ... ORPHA:381
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypoplasia of the corpus callosum, Cessation of ... ORPHA:98794
Angelman Syndrome
Fair hair, Cerebral cortical atrophy, Secondary microcephaly, Blue irides, Hypopigmentation of th... OMIM:105830
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, Abnormality of the diencephalon, Generalized ... ORPHA:2720
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Premature graying of hair, White eyebrow, Ocular albinism, White eyelashes,... OMIM:611584
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Anterior pituitary h... ORPHA:98754
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Cerebral calcification, Alopecia, Hypopigmented skin patches ORPHA:3453
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Anterior pituitary h... ORPHA:98793
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, Thick eyebrow, White e... OMIM:193500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Anterior pituitary h... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Anterior pituitary h... ORPHA:177901
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Cafe-au-lait spot, Hypopigme... ORPHA:457485
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Hypopigmentation of the skin, Alopecia OMIM:163200
Papillon-Lefèvre Syndrome
Generalized hirsutism, Abnormality of the nail, Hypertrichosis, Cerebral calcification, Hypopigme... ORPHA:678
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Anterior pituitary h... ORPHA:398073
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Galloway-Mowat Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Small fo... OMIM:251300
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Cerebral cortical atrophy, Aplasia/Hypop... ORPHA:1784
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Agenesis of corpus callosum, Axillary freckling, Hypopigmentation of... OMIM:276300
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Patent ductus arteriosus, Anterior pituitary hyp... ORPHA:177907
Harrod Syndrome
Cerebral cortical atrophy, Failure to thrive, Hypopigmented skin patches, Intrauterine growth ret... ORPHA:2115
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hyperpigmentation of the skin, Generalized reticulate brown pigmentation, Alopecia, Depigmentatio... ORPHA:79396
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Cachexia, Multiple cafe-au-lait spots, Ge... ORPHA:1969
Porphyria, Congenital Erythropoietic
Absent eyebrow, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of the skin, Alopecia, Hypop... OMIM:263700
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small pituitary gland, Hypothalamic luteinizing hormone-releasing hormo... ORPHA:398079
Prader-Willi Syndrome
Abdominal obesity, Hypopigmentation of hair, Abnormal cerebral white matter morphology, Small pit... ORPHA:739
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Decreased response to growth hormone stimuation ... OMIM:176270
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Hypopigmentation of hair, Small pituitary gland, Hypothalamic luteinizing horm... ORPHA:398069
Angelman Syndrome
Iris hypopigmentation, Delayed menarche, Fair hair, Cerebral dysmyelination, Cerebral cortical at... ORPHA:72
Oculocerebrocutaneous Syndrome
Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Hypopigmented skin patches ORPHA:1647
Crouzon Disease
Melanocytic nevus, Hypopigmented skin patches ORPHA:207
Porphyria Variegata
Hypertrichosis, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:79473
Epidermal Nevus Syndrome
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:35125
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin OMIM:278720
Porphyria Cutanea Tarda
Hypertrichosis, Hirsutism, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:101330
Mosaic Trisomy 8
Hypopigmented skin patches, Agenesis of corpus callosum, Hypopigmentation of the skin ORPHA:96061
Hermansky-Pudlak Syndrome 2
Albinism, Ocular albinism, Fair hair, Microcephaly, Generalized hypopigmentation, Aberrant melano... OMIM:608233
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Trun... ORPHA:2637
Curry-Jones Syndrome
Generalized hirsutism, Agenesis of corpus callosum, Hypopigmented skin patches ORPHA:1553
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Aplastic/hypoplastic toenail, Synophrys, Hypopigmented skin patches ORPHA:1295
Rothmund-Thomson Syndrome
Abnormality of the nail, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Sparse hair, Na... ORPHA:2909
Ruvalcaba Syndrome
Generalized hirsutism, Microcephaly, Hypopigmented skin patches ORPHA:3121
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, White eyebrow, Cerebral dysmyelination, White eyelashes, White forelock, Hy... OMIM:609136
Bloom Syndrome
Spotty hypopigmentation, Postnatal growth retardation, Small for gestational age, Cafe-au-lait sp... OMIM:210900
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hypopigmented skin patches ORPHA:47
Buschke-Ollendorff Syndrome
Generalized hypopigmentation ORPHA:1306
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Prolonged G2 phase of cell cycle, Hydrocephalus, Hypoplasia of ... OMIM:227646
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Vitiligo, Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Postnata... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Vitiligo, Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Postnata... ORPHA:363958
Incontinentia Pigmenti
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail, Abnormal ... ORPHA:464
Rothmund-Thomson Syndrome Type 1
Sparse hair, Nail dysplasia, Alopecia totalis, Hyperpigmentation of the skin, Sparse or absent ey... ORPHA:221008
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Eec Syndrome
Nail pits, Coarse hair, Slow-growing hair, Thick eyebrow, Sparse and thin eyebrow, Fine hair, Gen... ORPHA:1896
Short Stature With Microcephaly And Distinctive Facies
Spotty hypopigmentation, Decreased body weight, Severe short stature, Small for gestational age, ... OMIM:615789
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Small for gestational age, Cafe-au-lait spot, Short stature, Mi... OMIM:600901
Fanconi Anemia, Complementation Group C
Small for gestational age, Cafe-au-lait spot, Short stature, Hyperpigmentation of the skin, Intra... OMIM:227645
Rothmund-Thomson Syndrome Type 2
Sparse hair, Nail dysplasia, Alopecia totalis, Hyperpigmentation of the skin, Sparse or absent ey... ORPHA:221016
Syndromic Diarrhea
Hypopigmentation of hair, Uncombable hair, Brittle hair, Cafe-au-lait spot, Woolly hair, Trichorr... ORPHA:84064
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
Bloom Syndrome
Growth delay, Small for gestational age, Cafe-au-lait spot, Abdominal obesity, Intrauterine growt... ORPHA:125
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Small for gestational age, Cafe-au-lait spot, Short stature, Mi... OMIM:227650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail pits, Sparse eyelashes, Sparse axillary hair, Fair hair, Sparse pubic hair, Hypoplastic nipp... OMIM:604292
Gapo Syndrome
Early balding, Sparse and thin eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes ORPHA:2067
Dyskeratosis Congenita
Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormal eyelash morphology,... ORPHA:1775
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Growth delay, Cerebral atrophy, Retinal pigment... OMIM:219800
Hepatoerythropoietic Porphyria
Scarring alopecia of scalp, Facial hypertrichosis, Loss of eyelashes, Hyperpigmentation of the sk... ORPHA:95159
Localized Scleroderma
Vitiligo, Abnormality of skin adnexa morphology, Hyperpigmentation of the skin, Patchy alopecia, ... ORPHA:90289
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail pits, Sparse hair, Sparse eyelashes, Sparse axillary hair, Fair hair, Nail dysplasia, Sparse... OMIM:129900
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Fanconi Anemia
Abnormality of skin pigmentation, Spina bifida, Irregular hyperpigmentation, Growth delay, Patent... ORPHA:84
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Duane Retraction Syndrome
Central heterochromia, Irregular hyperpigmentation, Low posterior hairline, Hypopigmented skin pa... ORPHA:233
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Abdominal obesity, Intrauterine growth retardation, Microcephaly, Generalized hypo... OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Disproportionate short stature, Areas of hypopigmentation and hyperpigmentation that do not follo... OMIM:210720
Xeroderma Pigmentosum
Freckling, Melanocytic nevus, Hypopigmented skin patches, Cerebral cortical atrophy, Failure to t... ORPHA:910
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Facial hypertrichosis, Loss of eyelashes, Hyperpigmentation of the sk... ORPHA:79277
Chromomycosis
Hypopigmented skin patches ORPHA:182
Rare Cutaneous Lupus Erythematosus
Abnormality of the periungual region, Onycholysis, Nail bed telangiectasia, Pterygium of nails, M... ORPHA:535
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Hypopigmented skin patches ORPHA:183
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Hydrocephalus, Absent sept... ORPHA:2556
Pitt-Hopkins Syndrome
Aplasia/Hypoplasia of the corpus callosum, Growth delay, Postnatal growth retardation, Small cere... ORPHA:2896
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Abnormal hair whorl, Abnormal cerebral white matte... ORPHA:163956
Scleroderma
Irregular hyperpigmentation, Spotty hypopigmentation, Cerebral atrophy, Hyperintensity of cerebra... ORPHA:801
22Q11.2 Deletion Syndrome
Spina bifida, Arrhinencephaly, Patent ductus arteriosus, Umbilical hernia, Hypopigmented skin pat... ORPHA:567
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Hypopigmented skin patches on arms, Hypermelanotic macule, Cerebral calcification OMIM:607944
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic toenail, Dystrophic fingernai... ORPHA:2907
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Melanocytic nevus, Hypopigm... ORPHA:636
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Mend Syndrome
Spotty hypopigmentation, Hypoplasia of the corpus callosum, Failure to thrive, Short stature, Hyd... ORPHA:401973
Mosaic Trisomy 20
Depigmentation/hyperpigmentation of skin, Hypopigmented streaks ORPHA:1724
Oculocerebrorenal Syndrome Of Lowe
Umbilical hernia, Delayed puberty, Failure to thrive, Short stature, Generalized hypopigmentation ORPHA:534
Cowden Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Failure to thrive, Hypopigmented skin patches ORPHA:201
Systemic Sclerosis
Spotty hypopigmentation, Irregular hyperpigmentation, Nail bed telangiectasia, Alopecia ORPHA:90291
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anonychia, Trichiasis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Nail dystrophy ORPHA:95455
Sotos Syndrome
Cavum septum pellucidum, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Patent duct... ORPHA:821
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Megalencephaly, Patchy hypo- and hyperpigmentation, Synophrys, Cerebral edema ORPHA:3063
Kindler Syndrome
Spotty hypopigmentation, Spotty hyperpigmentation, Ridged nail OMIM:173650
Sarcoidosis
Hyperpigmentation of the skin, Hypopigmentation of the skin, Weight loss ORPHA:797
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Abnormal hair morphology, Abnorma... ORPHA:79474
Pallister-Killian Syndrome
Stillbirth, Mesomelic/rhizomelic limb shortening, Rhizomelia, Patent ductus arteriosus, Hypopigme... OMIM:601803

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

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MGI Allele Allele Type Produced
Magohtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Magohtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Magohtm49410(L1L2_Pgk_P) Targeting vectors

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