banner
Genes Phenotypes Help, News, Blog

Gene: Slc35c1 MGI:2443301

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 35, member C1
Synonyms:
E430007K15Rik,  FUCT1

Order Alleles

IMPC Data Collections

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

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.

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 Slc35c1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc35c1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Widow's peak, Reduction of neutrophil motility, Bronchiol... OMIM:266265
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Neutrophilia, Short stature, Small for gestational age, Microcytic anemia, Leukocy... ORPHA:99843

The table below shows human diseases predicted to be associated to Slc35c1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Follicular hyperplasia, Autoimm... OMIM:614470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenom... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia... ORPHA:169154
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Pneumonia, Abnormal immuno... ORPHA:276
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Pyknoachondrogenesis
Stillbirth OMIM:265880
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocyt... OMIM:226990
Roifman Syndrome
Hypogonadotropic hypogonadism, Short stature, Eosinophilia, Postnatal growth retardation, Recurre... ORPHA:353298
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure to thrive, Reduced... OMIM:615592
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoim... OMIM:613179
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Lymphadenopathy, H... OMIM:619644
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... ORPHA:331206
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, L... OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Lymph node hypoplasia, Decreased circula... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... ORPHA:169160
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent pneumonia, Re... OMIM:617585
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Bronchiectasis, Decreased circulating t... OMIM:617638
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Roifman Syndrome
Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Recurrent pneumonia, Pro... OMIM:616651
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Omenn Syndrome
Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Abnormal ... ORPHA:39041
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8... ORPHA:911
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Hypersensitivity p... ORPHA:2902
Immunodeficiency 88
Eosinophilia OMIM:619630
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Growth delay, Hepatosplenomegaly, Anemia OMIM:607115
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:243700
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Increased circulating IgE level, Bronchiectasis, Eosinophilia OMIM:618523
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ... OMIM:304790
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymp... OMIM:603554
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Eosinophilia, Increased circulating IgE level, Steril... OMIM:618282
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Increased circulating IgE level, Nail dystrophy OMIM:270300
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Netherton Syndrome
Sparse scalp hair, Failure to thrive, Brittle hair, Recurrent respiratory infections, Brittle sca... OMIM:256500
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Abscess, Abnormality of the testis size, Eosinophilia, ... ORPHA:400
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level OMIM:618092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Gr... OMIM:617388
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Increased proportion autoreactive unresponsive CD21-/low B cells... OMIM:618534
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... ORPHA:90045
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, C... OMIM:612541
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... OMIM:617237
Aspergillosis
Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Increased circulating IgE level, Bronchiec... ORPHA:1163
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Short stature, Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Recurrent respiratory infections, Abscess, Eosinophilia, Increased... OMIM:615816
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Immunodeficiency 27A
Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Enlarged mesenteric lymph node, Lympha... OMIM:209950
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Cervical lymphadenopathy, Recu... ORPHA:2686
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphadenopathy, Weight loss, Interstitial pneumonitis, Lymphocytosis ORPHA:139402
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Abnormal hair morphology, Atelectasis, Increased ... ORPHA:2314
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia OMIM:613412
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Abnormal posturing, Failure to th... OMIM:614857
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... ORPHA:449400
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Increased circulating IgA level, Pleural thickening, Increased circulating IgE l... OMIM:619632
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Weight loss ORPHA:2070
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, Increased circulating IgE level, Recurrent up... ORPHA:277
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... ORPHA:98813
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... OMIM:618982
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le... OMIM:615285
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Abnormality of the lymphati... ORPHA:54251
Vici Syndrome
Lymphopenia, Failure to thrive, Hypopigmentation of hair, Recurrent respiratory infections, Albin... OMIM:242840
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphade... ORPHA:3226
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Wells Syndrome
Eosinophilia ORPHA:901
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent respiratory infections, Short stature, Postnatal growth retardation, Splen... OMIM:620210
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Widow's peak, Reduction of neutrophil motility, Bronchiol... OMIM:266265
Immunodeficiency 54
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Splenomegaly, Lymp... OMIM:609981
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased c... ORPHA:284
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Disproportionate short stature, Eosinophilia, Decreased circulating antibody level OMIM:617425
Dystonia 31
Abnormal posturing OMIM:619565
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormal lung morphology, Abnormality of the lymphatic system, Hypereosi... ORPHA:2035
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Tularemia
Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M... ORPHA:3392
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Coarse hair, Nail dystrophy, Sparse hair,... OMIM:158310
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Reduced natural killer cell co... OMIM:615214
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ... ORPHA:3260
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Coccidioidomycosis
Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphad... ORPHA:228123
Igg4-Related Pachymeningitis
Lymphadenitis, Abnormal lung morphology, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Incontinentia Pigmenti
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Fine hair, Coarse hair... OMIM:308300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Disproportionate short stature, Increa... ORPHA:508533
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility OMIM:615872
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Weight loss,... ORPHA:199299
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy,... ORPHA:449432
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Eosinophilia, Abnormal pleura morphology, Weight loss ORPHA:183
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Acquired Partial Lipodystrophy
Lymphocytosis, Generalized hirsutism ORPHA:79087
Immunodeficiency 92
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... OMIM:619652
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Orchitis, Abnormal lung morphology, Increased cir... ORPHA:449563
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch... OMIM:308230
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morphology, Increase... ORPHA:449395
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Sarcoidosis
Hemolytic anemia, Alopecia, Eosinophilia, Abnormal pleura morphology, Thrombocytopenia, Increased... ORPHA:797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphade... ORPHA:520
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis OMIM:619466
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,... ORPHA:98850
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphocytopenia, Bone... OMIM:301078
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... ORPHA:244
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Recurrent pharyngitis, Bon... ORPHA:829
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Pneumocystosis
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... ORPHA:723
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Aspiration pneumonia, Weight loss ORPHA:216866
Incontinentia Pigmenti
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Abnormal hair morphology, Dystrophic... ORPHA:464
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Thrombocytopenia, Leukocytosis, Decreased circulating antibody level... OMIM:274000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Nail dystrophy, B... OMIM:615190
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Abnormal pulmonary inters... OMIM:620233
Whim Syndrome
Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... ORPHA:51636
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia OMIM:620321
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy ORPHA:79456
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... ORPHA:906
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Failure to thrive, Reticulocytosis, Recurrent respiratory infections, Anisocyto... OMIM:618278
Kikuchi-Fujimoto Disease
Alopecia, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, ... ORPHA:50918
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cushing Disease
Sparse scalp hair, Leukocytosis, Increased body weight, Secondary amenorrhea, Truncal obesity, Ab... ORPHA:96253
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymphadenopathy, Im... OMIM:306400
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Bronchopulmonary Dysplasia
Small for gestational age, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema ORPHA:70589
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Leukocytosis, Pneumothorax, Acute infectious pneumonia, Leukopenia, Pleu... ORPHA:36238
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... OMIM:617718
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Short eyelashes, Lymphocytos... OMIM:258360
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Recurrent upper respiratory tract infections, Recurrent streptococcus pneumon... ORPHA:225147
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Neoplasm of the thymus, Small cell lung carcinoma, Leukocytosis, Increased bod... ORPHA:99889
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Wolcott-Rallison Syndrome
Short stature, Neutropenia, Growth delay, Iron deficiency anemia, Lymphocytosis, Decreased body w... ORPHA:1667
Asbestos Intoxication
Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... ORPHA:2302
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... OMIM:260920
Farber Disease
Short stature, Nodular pattern on pulmonary HRCT, Thrombocytopenia, Atelectasis, Recurrent upper ... ORPHA:333
Sandifer Syndrome
Abnormal posturing, Anemia ORPHA:71272
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Pulmonary fibrosis OMIM:612852
Brucellosis
Liver abscess, Bronchitis, Increased circulating IgG level, Leukopenia, Leukocytosis, Lymphadenop... ORPHA:1304
Viss Syndrome
Sparse scalp hair, Alopecia, Short stature, Increased circulating IgE level, Hypereosinophilia, P... OMIM:619472
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Neutrophilia, Short stature, Small for gestational age, Microcytic anemia, Leukocy... ORPHA:99843
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... OMIM:618213
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocy... OMIM:301074
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Neonatal death OMIM:300219
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, We... ORPHA:171
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Target cells, Increased red cel... OMIM:603903
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Meconium Aspiration Syndrome
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Familial Mediterranean Fever
Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Pleural effusion, Pleuritis OMIM:249100
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Nail dystrophy OMIM:614204
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia ORPHA:75565
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Waardenburg Syndrome Type 3
Atelectasis, White hair, Thick eyebrow ORPHA:896
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Short stature, Polycythemia, Thrombocytosis, Pneumonia, Perianal abscess,... ORPHA:2968
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Abnorma... ORPHA:221
Lujo Hemorrhagic Fever
Atelectasis, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Unilateral Polymicrogyria
Abnormal posturing, Perisylvian polymicrogyria, Pulmonary arteriovenous malformation ORPHA:268943
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of the thymus, Pulmo... OMIM:613177
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Atelectasis, Pulmonary hypoplasia, Hypoplastic nipples, Neonatal death, Intrauterin... OMIM:269860
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Abnormality of the lymphatic system, Pneumothorax,... ORPHA:538
Zygomycosis
Brain abscess, Mediastinal lymphadenopathy, Atelectasis, Pneumothorax, Acute infectious pneumonia... ORPHA:73263
22Q11.2 Deletion Syndrome
Short stature, Abnormality of the tonsils, Impaired T cell function, Splenomegaly, Cryptorchidism... ORPHA:567
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Diffuse alveolar hemorrhage, Orchitis, Splenomegaly, Leukocytosis, Ly... ORPHA:99827
Liver Disease, Severe Congenital
Dry hair, Pneumonia, Splenomegaly, Hydrocele testis, Leukopenia, Anemia, Nail dystrophy, Lymphocy... OMIM:619991
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Lissencephaly, Decreased body weight, Recurrent lower respiratory tract infections, ... ORPHA:258
Digeorge Syndrome
Short stature, Impaired T cell function, Splenomegaly, Thrombocytopenia, Atelectasis, Recurrent p... OMIM:188400
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Recurrent respiratory infections, Short stature, Cryptorchidism, Atelectasis, ... ORPHA:534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Failure to thrive ORPHA:365
Chand Syndrome
Curly hair, Atelectasis ORPHA:1401
Relapsing Polychondritis
Atelectasis, Alopecia ORPHA:728

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 Slc35c1

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 Slc35c1.

No publications found that use IMPC mice or data for Slc35c1.

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
Slc35c1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc35c1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter