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Gene: Alg1 MGI:2384774

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Gene Summary

Name:
asparagine-linked glycosylation 1 (beta-1,4-mannosyltransferase)
Synonyms:
HMT1,  HMAT1

Order Alleles

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
preweaning lethality, complete penetrance Alg1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Alg1tm1b(KOMP)Wtsi HET Early adult 9.16×10-05
increased lymphocyte cell number Alg1tm1b(KOMP)Wtsi HET Early adult 3.41×10-05
increased basophil cell number Alg1tm1b(KOMP)Wtsi HET Early adult 5.44×10-06
increased eosinophil cell number Alg1tm1b(KOMP)Wtsi HET Early adult 4.81×10-10
abnormal coat/hair pigmentation Alg1tm1b(KOMP)Wtsi HET Early adult 8.80×10-07
abnormal cholesterol homeostasis Alg1tm1b(KOMP)Wtsi HET Early adult 1.37×10-06

Download data as:  TSV  XLS

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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 Alg1 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 Alg1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly OMIM:608540
Alg1-Cdg
ORPHA:79327

The table below shows human diseases predicted to be associated to Alg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Immunodeficiency 88
Eosinophilia OMIM:619630
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia, Spotty hyperpigmentation ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Halothane Hepatitis
Eosinophilia OMIM:234350
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Eosinophilia, Brittle hair OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... ORPHA:169154
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Patchy alopecia, Vitiligo, Neutropenia, Splenomegaly OMIM:615387
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin eyebrow, Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Hypoplas... OMIM:258360
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Cinca Syndrome
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly OMIM:607115
Omenn Syndrome
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Eosinophilia, Splenomegaly, Ab... ORPHA:39041
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Eosinophilia ORPHA:2070
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Netherton Syndrome
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair OMIM:256500
Omenn Syndrome
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinoph... OMIM:603554
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... ORPHA:79477
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Alopecia of... OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Th... OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Roifman Syndrome
Hyperconvex nail, Prominent eyelashes, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Sterile abscess, Cutaneous abscess, Eosinophilia OMIM:618282
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Acquired Partial Lipodystrophy
Lymphocytosis, Generalized hirsutism ORPHA:79087
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Coarse hair, Breast aplasi... OMIM:308300
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Roifman Syndrome
Prominent eyelashes, Splenomegaly, Eosinophilia OMIM:616651
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Nail dysplasia, Eosinophilia, Coarse hair, Sparse hair... OMIM:158310
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Abnormal eosinophil morphology ORPHA:1164
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Dystrophic fingernails, Paronychia, Eosinophilia ORPHA:2314
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity, Aplastic ... OMIM:614743
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Premature graying of hair, Abnormally low T cell receptor excision circle level, Pancytopenia, Ly... OMIM:619767
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Incontinentia Pigmenti
Alopecia, Dystrophic toenail, Irregular hyperpigmentation, Abnormality of skin pigmentation, Supe... ORPHA:464
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Hyperlipidemia, Partial albinism ORPHA:79476
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Abnorm... ORPHA:381
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Eosinophilia, Vitiligo ORPHA:199299
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... OMIM:308240
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Cystic Echinococcosis
Peritoneal abscess, Abscess, Splenic cyst, Eosinophilia ORPHA:400
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Lymphopenia ORPHA:100
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... ORPHA:3322
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Hypopigmented skin patches ORPHA:183
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Scleroderma
Hypereosinophilia, Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation ORPHA:801
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Premature graying of hair, Pancytopenia, White forelock, Nail dysplasia, Thrombocytop... OMIM:613989
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Alveolar Echinococcosis
Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Eosinophilia ORPHA:284
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Abnormality of the spleen, Mixed hypo- and hyperpigmentation of the skin, Myelopro... ORPHA:79456
Psoriasis 14, Pustular
Neutrophilia, Nail dystrophy, Leukocytosis OMIM:614204
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Thrombocytopenia-Absent Radius Syndrome
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:274000
Lymphatic Filariasis
Hypereosinophilia, Hyperpigmentation of the skin ORPHA:2035
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... OMIM:619172
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Chédiak-Higashi Syndrome
Splenomegaly, Anemia, Hypopigmentation of the skin, Neutropenia, Iris hypopigmentation, Large clu... ORPHA:167
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia ORPHA:228123
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Sarcoidosis
Leukopenia, Anemia, Alopecia, Hypopigmentation of the skin, Hemolytic anemia, Increased T cell co... ORPHA:797
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Cushing Disease
Sparse scalp hair, Increased circulating cortisol level, Decreased eosinophil count, Lymphopenia,... ORPHA:96253
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation OMIM:618156
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, Anemia, White hair, Lymphopenia ORPHA:935
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Cafe-au-lait spot, Generalized hypopigmentation, Trichorr... ORPHA:84064
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Vici Syndrome
Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Ocular albinism, Albinism, Lymphopen... OMIM:242840
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level OMIM:609734
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia ORPHA:75565
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Viss Syndrome
Hypereosinophilia, Alopecia, Hirsutism, Sparse scalp hair OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Increased circulating cortisol level, Decreased eosinophil count, Lymphopenia,... ORPHA:99889
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Alopecia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:50918
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... ORPHA:163746
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Anemia, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail ORPHA:221
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Primary Sclerosing Cholangitis
Histiocytosis, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly ORPHA:171
Degcags Syndrome
Leukopenia, Anemia, Abnormal eyebrow morphology, Hypopigmentation of the skin, Abnormality of ski... OMIM:619488
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Prader-Willi Syndrome
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... ORPHA:177907
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Liver Disease, Severe Congenital
Leukopenia, Anemia, Dry hair, Lymphocytosis, Nail dystrophy, Thrombocytopenia, Splenomegaly OMIM:619991
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Cystinosis, Nephropathic
Hypopigmentation of the skin, Splenomegaly, Retinal pigment epithelial mottling, Hypopigmentation... OMIM:219800
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Red hair, Blue irides ORPHA:280651
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly OMIM:608540
Alg1-Cdg
ORPHA:79327

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 Alg1

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 Alg1.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Alg13tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Alg13tm1a(KOMP)Wtsi Alg13tm1a(KOMP)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Alg1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Alg1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Alg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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