Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arachidonate 5-lipoxygenase
Synonyms:
5-LOX,  5LX,  5LO

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Alox5 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 Alox5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asthma, Susceptibility To
OMIM:600807

The table below shows human diseases predicted to be associated to Alox5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Isolated Osteopoikilosis
Autoimmunity, Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossifi... ORPHA:166119
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia OMIM:610947
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Atypical scarring of skin, Increa... ORPHA:2485
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Bone marrow hypocellularity,... ORPHA:811
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Diaphyseal sclerosis, Craniofacial hyperostosis, ... OMIM:122860
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... ORPHA:98848
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Decreas... ORPHA:79085
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypogly... ORPHA:411593
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... OMIM:613470
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435660
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... OMIM:618935
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus OMIM:612227
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Hypercholesterolem... OMIM:612526
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Leukocyte Adhesion Deficiency
Sinusitis, Impaired platelet aggregation, Conjunctivitis, Leukocytosis, Polycythemia, Bone marrow... ORPHA:2968
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mucous Membrane Pemphigoid
Autoimmunity, Atypical scarring of skin ORPHA:46486
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... ORPHA:94089
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... ORPHA:3132
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:615703
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Autoimmunity, Hypocalcemic tetany, Hypocalcemic seizures, Autoimmu... ORPHA:36913
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233710
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Abnormality of connective tissue, Systemic lupus erythematosus, Rheumatoid arthriti... ORPHA:399180
Immunodeficiency 31C
Autoimmunity, Osteopenia, Diabetes mellitus, Hypothyroidism, Delayed puberty, Autoimmune hemolyti... OMIM:614162
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... ORPHA:1306
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:306400
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density, Umbilical hernia OMIM:614856
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Reduced intrat... ORPHA:2457
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... OMIM:239000
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperosto... ORPHA:77296
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypercholesterolemia, Hypogonadism, Diabetes mellitus ORPHA:181393
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Temple Syndrome
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Hypertriglycerid... OMIM:616222
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... OMIM:259700
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Insulin-Resistance Syndrome Type B
Autoimmunity, Increased serum testosterone level, Type II diabetes mellitus, Abnormality of circu... ORPHA:2298
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin OMIM:614962
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... ORPHA:280365
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Dysosteosclerosis
Abnormal dental enamel morphology, Coarse metaphyseal trabecularization, Craniofacial hyperostosi... ORPHA:1782
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Type 1 Diabetes Mellitus
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Congenital Generalized Lipodystrophy
Precocious puberty in females, Bone cyst, Lipodystrophy, Adipose tissue loss, Hypercholesterolemi... ORPHA:528
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hypercalcemia, Calvarial osteosclerosis, Osteopen... OMIM:617994
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Precocious puberty ORPHA:254531
Poems Syndrome
Sclerosis of foot bone, Abnormality of the endocrine system, Lipodystrophy, Primary adrenal insuf... ORPHA:2905
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Reduced subcutaneous adipose tissue, Diaphyseal scler... OMIM:131300
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthritis, Hypothyroidism ORPHA:48377
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Werner Syndrome
Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Osteoporosis, Lipodystrophy, Hyp... ORPHA:902
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79443
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... ORPHA:77297
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Delayed puberty,... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Autoimmunity, I... ORPHA:3453
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Abnormality of the endocrine system, Delayed puberty ORPHA:633
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:608594
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Autoimmunity, Panniculitis, Hypertriglyceridemia OMIM:618398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Hypocalcemia, Decrea... OMIM:241410
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:269700
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 22
Autoimmunity, Panniculitis OMIM:615758
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... OMIM:614008
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Acquired Generalized Lipodystrophy
Autoimmunity, Insulin-resistant diabetes mellitus, Unicameral bone cyst, Abnormal circulating lip... ORPHA:79086
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... ORPHA:89936
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Hypocalcemia,... OMIM:127000
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Goiter, Neonatal hyperbilirubinemia, Thyroid hy... ORPHA:90674
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Galactokinase Deficiency
Hypergalactosemia, Hypercholesterolemia, Hypergonadotropic hypogonadism, Increased level of galac... ORPHA:79237
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal dental enamel morphology, Abnormal cortical bone morphol... ORPHA:2658
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... ORPHA:1798
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... ORPHA:79480
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... ORPHA:412
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Goiter, Nodular goiter, Abnormality of... ORPHA:64744
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Abnormal dental enamel ... ORPHA:2323
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Precocious puberty ORPHA:96184
Trichothiodystrophy
Absence of subcutaneous fat, Craniosynostosis, Osteopenia, Enamel hypoplasia, Increased bone mine... ORPHA:33364
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoalbuminemia, Increased ... ORPHA:86816
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Omphalocele, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90652
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Elevated circulating c... ORPHA:800
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Hypophosphatemia, Increased bone mineral d... OMIM:259775
Gaucher Disease
Osteoarthritis, Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Osteomye... ORPHA:355
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Erdheim-Chester Disease
Diabetes insipidus, Hypogonadotropic hypogonadism, Osteomyelitis, Xanthelasma, Increased bone min... ORPHA:35687
12Q14 Microdeletion Syndrome
Osteopoikilosis, Diabetes mellitus ORPHA:94063
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland OMIM:182290
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Autoimmunity, Antiphospholipid antibody positivity, Osteopenia, Au... ORPHA:227982
Mastocytosis
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly ORPHA:98292
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Ab... OMIM:602398
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Joint hyperflexibility, Hypothyroidism, Osteopenia ORPHA:2479
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Antiphospholipid antibody positivity, Osteopenia, Autoimmune thrombocytopenia, Rheu... ORPHA:227990
Mirage Syndrome
Leukopenia, Anemia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia, Aspiration pneumonia OMIM:617053
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Delayed puberty, Osteolysis ORPHA:77261
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Rett Syndrome
Increased serum pyruvate, Increased serum leptin, Hyperammonemia ORPHA:778
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Arthritis, Hyperapobetalipop... OMIM:210250
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism, Osteopenia OMIM:249310
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:278000
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Autoimmunity, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, R... ORPHA:405
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Joint stiffness, Precocious puberty, ... ORPHA:819
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Pmm2-Cdg
Impaired neutrophil chemotaxis, Pericarditis, Aspiration pneumonia ORPHA:79318
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... ORPHA:264580
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Cleidocranial Dysplasia
Increased susceptibility to fractures, Enamel hypoplasia, Delayed pubic bone ossification, Increa... OMIM:119600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... ORPHA:79240
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Williams Syndrome
Hypercalcemia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Elevated circ... ORPHA:904
Pearson Syndrome
Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... ORPHA:699
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis, Gout, Hyperuricemia, Hyperch... ORPHA:79259
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Osteoarthritis, Absence of subcutaneous fat, Osteolytic defects... ORPHA:740
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Delayed puberty, Hypert... ORPHA:370
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Pulmonary carcinoid tumor, Hypertriglyceridemia ORPHA:363618
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria ORPHA:416
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Gaisböck Syndrome
Hyperproteinemia, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceride... ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Diabetes insipidus, Hypokalemia, Umbilical hernia, Hypophosphatemia, Arthritis, Abn... ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... ORPHA:667
Lowe Oculocerebrorenal Syndrome
Rickets, Elevated maternal serum alpha-fetoprotein, Joint contracture of the hand, Pathologic fra... OMIM:309000
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Osteopetrosis, Secondary hyperparathyroidism,... ORPHA:2785
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Hypercholesterolemia, Xanthelasma, Ste... ORPHA:275761
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Male hypogonadism OMIM:619471
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones OMIM:269150
Immunodeficiency 47
Hypercholesterolemia, Joint hypermobility, Decreased circulating copper concentration OMIM:300972
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Secondary hyperparathyroidism, Abnormality o... ORPHA:273
Alagille Syndrome 1
Hypercholesterolemia, Papillary thyroid carcinoma, Hypertriglyceridemia OMIM:118450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Elevated circulating creatinine concentration, Hyperbilirubinemia, Osteopenia... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Asthma, Susceptibility To
OMIM:600807

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 Alox5

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 Alox5.

No publications found that use IMPC mice or data for Alox5.

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MGI Allele Allele Type Produced
Alox5tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alox5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alox5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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