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Gene: Ager MGI:893592

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
advanced glycosylation end product-specific receptor
Synonyms:
RAGE

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 Ager mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Lethal Recessive Chondrodysplasia
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arth... ORPHA:37748
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Craniosynostosis, Th... OMIM:259700
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Chondrodysplasia, Blomstrand Type
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... OMIM:215045
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... OMIM:241530
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... ORPHA:1782
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatroph... ORPHA:163649
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Dent Disease 1
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... ORPHA:289157
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... OMIM:224300
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... OMIM:602080
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis OMIM:617306
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Anemia, Decreased circulating ... OMIM:612301
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... ORPHA:2780
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... ORPHA:1798
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... ORPHA:94089
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... OMIM:265800
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Generalized osteosclerosis, Small hand,... ORPHA:763
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, A... ORPHA:221016
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyp... OMIM:604367
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metat... ORPHA:79444
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Recurrent fractures, Osteomalacia,... ORPHA:1652
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplastic ane... ORPHA:2909
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, M... ORPHA:221008
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Familial Renal Glucosuria
Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy, Hyperglycemia, ... ORPHA:69076
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto... ORPHA:90652
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas... ORPHA:77261
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st m... ORPHA:79443
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of skull base, C... ORPHA:2905
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypoc... OMIM:241410
Cleidocranial Dysplasia 1
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... OMIM:119600
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... ORPHA:667
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension, Hyperglycemia OMIM:615954
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Pathologic fracture OMIM:259900
Desmosterolosis
Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly, Osteopetrosis ORPHA:35107
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Werner Syndrome
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis ORPHA:902
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... ORPHA:35687
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... OMIM:259775
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hyperglycemia OMIM:619737
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Desmosterolosis
Rhizomelia, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Bilateral... OMIM:602398
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Wrist flexion contract... ORPHA:800
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias OMIM:175700
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Postprandial hyp... OMIM:246200
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... ORPHA:2088
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility ORPHA:681
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Necrotizing Enterocolitis
Shock, Bradycardia, Abnormal glucose homeostasis, Hypotension, Hyperglycemia ORPHA:391673
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Hyp... ORPHA:465508
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis ORPHA:416
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hypertension, Hypotension, Hyperglycemia ORPHA:134
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res... ORPHA:769
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Rocker bottom foot,... ORPHA:79474
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... ORPHA:466677
Cole Disease
Hyperglycemia OMIM:615522
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Renal insufficiency, Portal hypertension ORPHA:440713
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... OMIM:269150
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Renal tubular dysfunction, ... ORPHA:99885
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:609069
Leprechaunism
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Recurrent inf... ORPHA:508
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II diabetes mellitus, H... OMIM:151660
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Decreased urinary potassium, Shortened PR interval, Impaired myocardial co... ORPHA:79102
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recurrent hypoglycemia... OMIM:124000
Heart Defects, Congenital, And Other Congenital Anomalies
Diabetes mellitus, Patent ductus arteriosus, Hyperglycemia, Glycosuria, Truncus arteriosus, Failu... OMIM:600001
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Hypercalcemia, Elevated ... ORPHA:904
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Dend Syndrome
Hyperglycemia ORPHA:79134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Congestive heart failure, Horseshoe kidney, Vesicoureteral reflux, Pulmonary arteria... ORPHA:444077
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Hypertension, Mitral regurgitation, Hyperglycemia, Hypertro... OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis, Hyperglycemia ORPHA:293987

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 Ager

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 Ager.

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

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MGI Allele Allele Type Produced
Agertm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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