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Gene: Iqgap1 MGI:1352757

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Gene Summary

Name:
IQ motif containing GTPase activating protein 1
Synonyms:
D7Ertd237e,  D7Ertd257e

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
decreased bone mineral density Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 2.78×10-06
increased grip strength Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 1.11×10-05
short tibia Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 3.54×10-16
decreased exploration in new environment Iqgap1tm1b(EUCOMM)Wtsi HOM   Early adult 3.72×10-05
increased lymphocyte cell number Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 1.85×10-14
increased leukocyte cell number Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-11

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Iqgap1 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 Iqgap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Gastric Cancer
Stomach cancer OMIM:613659
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Stuve-Wiedemann Syndrome
Short phalanx of finger, Pathologic fracture, Micrognathia, Elbow flexion contracture, Femoral bo... OMIM:601559
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... ORPHA:93356
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hernia, Hiatus
Hiatus hernia OMIM:142400
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Slc35A2-Cdg
Joint hypermobility, Camptodactyly of finger, Craniosynostosis, Abnormality of long bone morpholo... ORPHA:356961
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Reynolds Syndrome
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa ORPHA:779
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, D... OMIM:231095
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Limited e... OMIM:258315
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Cap Polyposis
Colorectal polyposis, Chronic atrophic gastritis, Hematochezia ORPHA:160148
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... OMIM:307800
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Histiocytosis, Anemia, Splenomegaly, Hepa... OMIM:209950
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:264700
Tibial Hemimelia
Absent tibia OMIM:275220
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic ... OMIM:617925
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Interphalangeal joint contracture of f... ORPHA:96334
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:277440
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Ankle swelling, Anemia ORPHA:514
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Perianal abscess, Gastritis OMIM:618108
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... ORPHA:1427
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Foot oligodactyly... OMIM:206920
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Edema of the do... OMIM:274000
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Congenital hip dislocation, Short metatarsal, Short th... OMIM:304120
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Tibial bowing, Osteomalacia, I... ORPHA:289157
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, Pa... ORPHA:98850
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Intussusception
Intussusception OMIM:147710
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Micrognathia, Pes planus, Abnorma... OMIM:210600
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Hypoplas... OMIM:114290
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid ... ORPHA:231222
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Recurren... ORPHA:140
Osteogenesis Imperfecta, Type Viii
Radial bowing, Joint laxity, Externally rotated/abducted legs, Recurrent fractures, Tibial bowing... OMIM:610915
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thro... ORPHA:98849
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Dysphagia, Chronic gastritis, Colitis OMIM:608809
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Phocomelia, Schinzel Type
Radial bowing, Humeroradial synostosis, Abnormality of tibia morphology, Hypoplasia of the radius... ORPHA:2879
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Accessory spleen, Upper limb undergrowth, Preaxial hand polydactyly, ... OMIM:236680
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Synostosis of carpal b... ORPHA:90652
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Williams Syndrome
Macroglossia, Gastroesophageal reflux, Rectal prolapse, Peptic ulcer, Abnormality of the gastric ... ORPHA:904
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Metaphyseal dysplasia, Neutropenia ORPHA:1667
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Cranioectodermal Dysplasia 1
Osteoporosis, Short toe, Triphalangeal hallux, Joint laxity, Broad toe, Rhizomelia, Short humerus... OMIM:218330
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Wolfram Syndrome
Gastric ulcer, Malabsorption, Gastrointestinal hemorrhage ORPHA:3463
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
Mixed Connective Tissue Disease
Xerostomia, Gastroesophageal reflux, Gastritis, Gastrointestinal hemorrhage ORPHA:809
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Camptodactyly, Craniofacial osteosclerosis, Flexion contracture of toe, Clinodac... OMIM:300373
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Microgastria-Limb Reduction Defects Association
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon OMIM:156810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Colitis, Gastritis, Ileus, Abnormal intestine morphology, Malabsorption ORPHA:37042
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Osteopenia, Hip d... OMIM:619297
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Colitis ORPHA:84064
Zygomycosis
Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Ileitis, Unusual gastrointestinal infecti... ORPHA:73263
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix ORPHA:2072
Ulbright-Hodes Syndrome
Humeroradial synostosis, Hypoplasia of the radius, Fibular aplasia, Short sternum, Mesomelia, Sho... ORPHA:3404
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:50918
Coffin-Siris Syndrome 1
Gastric ulcer, Intussusception, Intestinal malrotation, Cleft palate, High palate, Duodenal ulcer OMIM:135900
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Meconium ileus, Gastritis OMIM:219721
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Cervical C2/C3 vertebral fusion, Fibular hypoplasia, Small hand, Micrognathia, B... ORPHA:444077

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 Iqgap1

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 Iqgap1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Iqgap1tm1b(EUCOMM)Wtsi PMC8163790

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MGI Allele Allele Type Produced
Iqgap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Iqgap1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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