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Gene: Eddm3b MGI:2684921

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Gene Summary

Name:
epididymal protein 3B
Synonyms:
Fam12

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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
increased eosinophil cell number Eddm3btm1b(KOMP)Wtsi HOM Early adult 1.01×10-05
increased basophil cell number Eddm3btm1b(KOMP)Wtsi HOM Early adult 4.01×10-12
abnormal iris pigmentation Eddm3btm1b(KOMP)Wtsi HOM Early adult 3.54×10-10
dilated heart left ventricle Eddm3btm1b(KOMP)Wtsi HOM Early adult 6.15×10-05

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Viewing: all phenotypes

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 Eddm3b 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 Eddm3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Restrictive cardio... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... OMIM:619165
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Cinca Syndrome
Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Anemia OMIM:607115
Wells Syndrome
Eosinophilia ORPHA:901
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eosinophilia OMIM:618523
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Vitiligo OMIM:615387
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... ORPHA:54
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism, Leukopenia OMIM:614171
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Phenylketonuria
Fair hair, Generalized hypopigmentation, Cataract, Blue irides OMIM:261600
Roifman Syndrome
Splenomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia OMIM:616651
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
Griscelli Syndrome
Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White hair, Hypopigmented skin patche... ORPHA:381
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca... OMIM:617388
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess OMIM:618282
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina... OMIM:619172
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalize... ORPHA:2720
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... OMIM:214500
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Albinism, Ocular albinism, Iris transillumination defect, Thrombo... OMIM:614074
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia, Hyperpigmentation of the skin ORPHA:293173
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Iris hypopigmentation ORPHA:85194
Juvenile Xanthogranuloma
Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple cafe-au-la... ORPHA:158000
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmentation ORPHA:834
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... OMIM:158310
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Tonne-Kalscheuer Syndrome
Blue irides, Abnormal heart morphology OMIM:300978
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Abnormal iris pigmentation OMIM:132900
Aspergillosis
Keratitis, Eosinophilia, Neutropenia ORPHA:1163
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Noonan Syndrome 4
Ventricular septal defect, Blue irides, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:610733
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... OMIM:614077
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Hypopigmented skin patches, Endocardi... ORPHA:183
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Cardiom... ORPHA:79430
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Abnormal heart morphology, Pigmentary retinopathy, Hypoplasia of the ... OMIM:214110
Cystic Echinococcosis
Eosinophilia, Abscess, Abnormal heart morphology, Splenic cyst, Peritoneal abscess ORPHA:400
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Piebaldism, Hypopigmented skin patches,... ORPHA:2884
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect OMIM:617306
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan... ORPHA:167
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Ventricular septal defect, Corneal opacity, Brushfie... ORPHA:912
Noonan Syndrome 13
Blue irides, Mitral valve prolapse, Multiple lentigines, Atrial septal defect, Cafe-au-lait spot OMIM:619087
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... ORPHA:894
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Anemia, Iris... ORPHA:2719
Incontinentia Pigmenti
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Eosinophilia, Keratitis, Hypopigmen... ORPHA:464
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Irregular ... ORPHA:2969
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Incontinentia Pigmenti
Cataract, Eosinophilia, Keratitis, Leukocytosis, Uveitis, Abnormality of skin pigmentation OMIM:308300
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Ocular albinism, Albinism OMIM:614073
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Vitiligo ORPHA:199299
Alveolar Echinococcosis
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Anemia,... ORPHA:284
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Dilated cardiomyopathy, Splenomegaly,... ORPHA:3260
Thrombocytopenia-Absent Radius Syndrome
Cataract, Ventricular septal defect, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosi... OMIM:274000
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prolapse, T lymphoc... ORPHA:508533
Koolen-De Vries Syndrome
Cataract, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defe... OMIM:610443
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Down Syndrome
Ventricular septal defect, Brushfield spots, Complete atrioventricular canal defect, Partial anom... OMIM:190685
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Ventricular septal defect, Brushfield spots, Pigmentary retinopathy, Opacification of t... OMIM:214100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Ventricular septal defect, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Pigmenta... OMIM:614866
Angelman Syndrome
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio... OMIM:608233
Waardenburg Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... ORPHA:3440
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Patent foramen ovale, Abnormal heart morphology, Stellate iris, Hypopig... ORPHA:177907
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign ORPHA:2614
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Abnormal platelet granules, Albinism OMIM:614075
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Cataract, Albinism, Dilated cardiomyopathy, Ocular albinis... OMIM:242840
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Ocular albinism, Albinism OMIM:617050
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis... ORPHA:3205
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Coccidioidomycosis
Pericarditis, Abscess, Eosinophilia, Abnormality of the spleen, Granuloma ORPHA:228123
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Lymphatic Filariasis
Hypereosinophilia, Hyperpigmentation of the skin ORPHA:2035
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi... OMIM:176270
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Sarcoidosis
Hemolytic anemia, Cataract, Eosinophilia, Thrombocytopenia, Increased T cell count, Uveitis, Anem... ORPHA:797
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Retinoblastoma
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis ORPHA:790
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomegaly, Splenomega... ORPHA:75565
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... ORPHA:636
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Heterochromia iridis, Iris coloboma ORPHA:2995
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, H... OMIM:609136
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, Premature graying of hair, He... ORPHA:163746
Neuroocular Syndrome
Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri... OMIM:619539
Igg4-Related Ophthalmic Disease
Keratitis, Eosinophilia ORPHA:449563
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Ocular albinism ORPHA:1352
Trisomy 8P
Abnormal atrioventricular connection, Abnormal left ventricle morphology, Astigmatism, Tetralogy ... ORPHA:264450
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... ORPHA:906
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia ORPHA:449395
Williams Syndrome
Abnormal endocardium morphology, Posterior embryotoxon, Overriding aorta, Bicuspid aortic valve, ... ORPHA:904
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... OMIM:619472
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Fair hair, Blue irides OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Fair hair, Blue irides OMIM:129900
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Blue irides, Mitral valve prolapse, Premature g... OMIM:194050
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Hyperpigmentation of the skin ORPHA:96253
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatosplenomegaly, Histiocytosis ORPHA:171
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Dermatomyositis
Myocarditis, Pericarditis, Abnormal eosinophil morphology ORPHA:221
1P36 Deletion Syndrome
Cataract, Abnormal heart valve morphology, Abnormality of the spleen, Dilated cardiomyopathy, Ocu... ORPHA:1606
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Hyperpigmentation of the skin ORPHA:99889

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 Eddm3b

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 Eddm3b.

No publications found that use IMPC mice or data for Eddm3b.

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
Eddm3btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eddm3btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eddm3btm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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