Gene Summary

Name:
epididymal protein 3B
Synonyms:
Fam12

IMPC Data Collections

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.

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
dilated heart left ventricle Eddm3btm1b(KOMP)Wtsi HOM Early adult 6.15×10-05
abnormal iris pigmentation Eddm3btm1b(KOMP)Wtsi HOM Early adult 3.54×10-10

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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
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Halothane Hepatitis
Eosinophilia OMIM:234350
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Wells Syndrome
Eosinophilia ORPHA:901
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White ... OMIM:193510
Cinca Syndrome
Leukocytosis, Uveitis, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Keratitis, Eosinophilia OMIM:618523
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism, Astigmatism,... ORPHA:54
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Splenomegaly OMIM:616651
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy OMIM:275400
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
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, Uveitis, Punctate keratitis, Hypereosinophilia, Keratoconjunctivitis... OMIM:617388
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Abnormality of neutrophils, Silver-gray hair, W... ORPHA:381
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Reduced platelet dense granules, Iris tr... OMIM:619172
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia ORPHA:353298
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, White hair, Ocular albinis... ORPHA:2720
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Giant... OMIM:214500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Hypopigmented skin patches, White forelock, Part... OMIM:148820
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation ORPHA:79095
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoc... OMIM:158310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Myeloproliferative ... ORPHA:158000
Mental Retardation, Buenos Aires Type
Atrial septal defect, Blue irides, Fair hair OMIM:249630
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Premature graying of hair, White eyebrow, Ocular albinism, Hypoplasia of th... OMIM:611584
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Bicuspid aortic valve OMIM:132900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Mental Retardation, Autosomal Recessive 38
Blue irides OMIM:615516
Aspergillosis
Keratitis, Neutropenia, Eosinophilia ORPHA:1163
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Hypopigmented skin patches, Myocarditis, Eosinophi... ORPHA:183
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Abnormal heart morphology, Cataract, Opacification of t... OMIM:614866
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Blue irides, Fair hair OMIM:614613
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Limbal dermoid ORPHA:1791
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Neutropenia, Ocular albinism,... ORPHA:79430
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Pulmonic stenosis, Blue irides... OMIM:610733
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Abnormal heart morphology, Hypoplasia of the thymus, Ca... OMIM:214110
Netherton Syndrome
Hypereosinophilia OMIM:256500
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis ORPHA:139402
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Cystic Echinococcosis
Peritoneal abscess, Abnormal heart morphology, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, White eyelashes, White forelock, H... ORPHA:2884
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Down Syndrome
Complete atrioventricular canal defect, Acute megakaryocytic leukemia, Brushfield spots, Myelopro... OMIM:190685
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Splenomegaly ORPHA:834
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Iris hypopigmentation, Spotty hyperpi... ORPHA:167
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Scleroderma
Irregular hyperpigmentation, Pericarditis, Spotty hypopigmentation, Uveitis, Hypereosinophilia, K... ORPHA:801
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Ventricular septal defect, Posterior embryot... ORPHA:912
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Noonan Syndrome 13
Atrial septal defect, Cafe-au-lait spot, Multiple lentigines, Mitral valve prolapse, Blue irides OMIM:619087
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Corneal opacity, Ocular albinism, Cataract, Anem... ORPHA:2719
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, White h... ORPHA:894
Incontinentia Pigmenti
Abnormality of skin pigmentation, Leukocytosis, Uveitis, Cataract, Keratitis, Eosinophilia OMIM:308300
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Incontinentia Pigmenti
Abnormality of skin pigmentation, Abnormal chorioretinal morphology, Irregular hyperpigmentation,... ORPHA:464
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hermansky-Pudlak Syndrome 4
Albinism, Abnormal platelet granules, Ocular albinism OMIM:614073
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Albinism, Ocular albinism OMIM:614074
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Ab... ORPHA:2969
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:193500
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Late-Onset Isolated Acth Deficiency
Vitiligo, Normocytic anemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Abnormal pericardium morphology, Anemia, Liver abs... ORPHA:284
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Ventricular septal defect, Leukocytosis, Thrombocytopenia, Anemia, Tetralog... OMIM:274000
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dilated cardiomyopathy, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neu... ORPHA:3260
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Hermansky-Pudlak Syndrome 6
Albinism, Abnormal platelet granules, Ocular albinism OMIM:614075
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Ventricular septal defect, Cataract, Opacification of t... OMIM:214100
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Ocular albinism, Fair hair, Thrombocytopenia, Reduced natural killer cell ... OMIM:608233
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Koolen-De Vries Syndrome
Iris hypopigmentation, Atrial septal defect, Ventricular septal defect, Fair hair, Pulmonic steno... OMIM:610443
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Vici Syndrome
Developmental cataract, Albinism, Hypopigmentation of hair, Decreased proportion of CD4-positive ... OMIM:242840
Hermansky-Pudlak Syndrome 1
Freckling, Albinism, Freckles in sun-exposed areas, Melanocytic nevus, Ocular albinism, Cardiomyo... OMIM:203300
Angelman Syndrome
Keratoconus, Iris hypopigmentation, Fair hair, Astigmatism, Hypopigmentation of the skin ORPHA:72
Hermansky-Pudlak Syndrome 10
Albinism, Neutropenia, Ocular albinism, Splenomegaly OMIM:617050
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Heterochromia iridis, Premature grayi... ORPHA:3440
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Iris hypopigmentation, Astigmatism ORPHA:85167
Nail-Patella Syndrome
Primary congenital glaucoma, Abnormal iris pigmentation, Antecubital pterygium, Lester's sign ORPHA:2614
Duane Retraction Syndrome
Aniridia, Central heterochromia, Irregular hyperpigmentation, Chorioretinal coloboma, Iris colobo... ORPHA:233
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Abnormal choroid morphology, Co... ORPHA:3205
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Abnormal heart morphology, Hyperpigmentation of ... ORPHA:177907
Coccidioidomycosis
Pericarditis, Granuloma, Abnormality of the spleen, Abscess, Eosinophilia ORPHA:228123
Phace Syndrome
Heterochromia iridis, Abnormal heart morphology, Iris coloboma, Lens coloboma, Cataract, Tetralog... ORPHA:42775
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Blue irides OMIM:101800
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Hypopigmentation o... OMIM:176270
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, White eyebrow, White eyelashes, White forelock, Hypopigmented skin patches OMIM:609136
Retinoblastoma
Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis, Hypopyon, Leukemia ORPHA:790
Lymphatic Filariasis
Hypereosinophilia, Hyperpigmentation of the skin ORPHA:2035
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Left atrial enlar... ORPHA:75565
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Lisch nodules, Freckling, Heterochro... ORPHA:636
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Sarcoidosis
Hemolytic anemia, Increased T cell count, Uveitis, Abnormal conjunctiva morphology, Thrombocytope... ORPHA:797
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Ocular albinism ORPHA:1352
Hermansky-Pudlak Syndrome 8
Astigmatism, Albinism, Ocular albinism OMIM:614077
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia ORPHA:449395
Trisomy 8P
Heterochromia iridis, Astigmatism, Abnormal left ventricle morphology, Abnormal atrioventricular ... ORPHA:264450
Igg4-Related Ophthalmic Disease
Keratitis, Eosinophilia ORPHA:449563
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Splenomegaly, Hypopigm... ORPHA:163746
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Posterior embry... ORPHA:904
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Iris coloboma, Heterochromia iridis ORPHA:2995
Acrodysostosis With Multiple Hormone Resistance
Red hair, Blue irides, Fair hair ORPHA:280651
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Blue irides, Fair hair OMIM:604292
Williams-Beuren Syndrome
Atrial septal defect, Coronary artery stenosis, Premature graying of hair, Ventricular septal def... OMIM:194050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Blue irides, Fair hair OMIM:129900
Proteus Syndrome
Abnormality of skin pigmentation, Buphthalmos, Abnormality of retinal pigmentation, Central heter... ORPHA:744
Dermatomyositis
Abnormal eosinophil morphology, Pericarditis, Myocarditis ORPHA:221
1P36 Deletion Syndrome
Abnormal heart valve morphology, Ocular albinism, Abnormal cardiac septum morphology, Cataract, T... ORPHA:1606

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.

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MGI Allele Allele Type Produced
Eddm3btm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Eddm3btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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