banner
Genes Phenotypes Help, News, Blog

Gene: Iqgap1 MGI:1352757

Log in to follow

Gene Summary

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

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
increased leukocyte cell number Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 1.65×10-11
increased grip strength Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 6.69×10-06
short tibia Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 3.54×10-16
decreased exploration in new environment Iqgap1tm1b(EUCOMM)Wtsi HOM   Early adult 3.03×10-05
increased lymphocyte cell number Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 5.52×10-14
decreased bone mineral density Iqgap1tm1b(EUCOMM)Wtsi HOM Early adult 2.79×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

1 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

1 Images

View images

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
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Gastric Cancer
Stomach cancer OMIM:613659
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed femoral head ossificati... ORPHA:168621
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab... ORPHA:1802
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Hernia, Hiatus
Hiatus hernia OMIM:142400
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Thrombocytopenia, Leukopenia... OMIM:231095
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... OMIM:607143
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono... ORPHA:86843
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Joint st... ORPHA:2307
Tibial Hemimelia
Absent tibia OMIM:275220
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Inflammation of the large intestine OMIM:618108
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Delayed epiphyseal ossification, Enlargement of the ankles, Osteomalacia, ... ORPHA:289157
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Intussusception
Intussusception OMIM:147710
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis OMIM:612840
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:300009
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Tibial bowing, Femoral bowing, Short metacar... OMIM:610915
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p... OMIM:147060
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... ORPHA:140
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Anemia of inadequate production, Leukocytosis, Persiste... ORPHA:231222
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... OMIM:228520
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... OMIM:200980
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Arthritis, Decreased pro... OMIM:301074
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Wolcott-Rallison Syndrome
Lymphocytosis, Metaphyseal dysplasia, Iron deficiency anemia, Neutropenia ORPHA:1667
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Williams Syndrome
Peptic ulcer, Rectal prolapse, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal gastr... ORPHA:904
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa OMIM:616100
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h... OMIM:236680
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Wolfram Syndrome
Gastrointestinal hemorrhage, Gastric ulcer ORPHA:3463
Mixed Connective Tissue Disease
Gastroesophageal reflux, Gastrointestinal hemorrhage, Gastritis, Xerostomia ORPHA:809
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Neoplasm of the gallbladder, Abnormal duodenum morp... ORPHA:512
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes... OMIM:619297
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd... OMIM:214800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Abnormal intestine morphology, Recurrent gastroenteritis, Ileus, Colitis ORPHA:37042
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Enterocolitis, Hematochezia, Ileitis... ORPHA:73263
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Esophageal varix, Gastric ulcer ORPHA:2072
Coffin-Siris Syndrome 1
Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Gastric ulcer OMIM:135900
Kikuchi-Fujimoto Disease
Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia ORPHA:50918
Syndromic Diarrhea
Hepatoblastoma, Villous atrophy, Gastritis, Colitis ORPHA:84064
Liver Disease, Severe Congenital
Irritability, Anemia, Lymphocytosis, Short attention span, Micrognathia, Thrombocytopenia, Leukop... OMIM:619991
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Crohn's disease, Colitis OMIM:619381

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Iqgap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Iqgap1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Iqgap1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter