Gene Summary

Name:
ganglioside-induced differentiation-associated-protein 2
Synonyms:
D3Ertd801e

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Gdap2em1(IMPC)Wtsi HOM Early adult 4.29×10-06
decreased circulating amylase level Gdap2em1(IMPC)Wtsi HOM Early adult 1.85×10-05
increased bone mineral density Gdap2em1(IMPC)Wtsi HOM Early adult 6.97×10-05
decreased circulating serum albumin level Gdap2em1(IMPC)Wtsi HOM Early adult 4.01×10-09
thrombocytosis Gdap2em1(IMPC)Wtsi HOM Early adult 6.82×10-06
decreased circulating thyroxine level Gdap2em1(IMPC)Wtsi HOM Early adult 4.52×10-07
decreased total body fat amount Gdap2em1(IMPC)Wtsi HOM Early adult 1.68×10-07
decreased circulating fructosamine level Gdap2em1(IMPC)Wtsi HOM Early adult 1.32×10-08
absent pinna reflex Gdap2em1(IMPC)Wtsi HOM   Early adult 1.99×10-05

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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.

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

Human diseases caused by Gdap2 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 Gdap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis OMIM:618369

The table below shows human diseases predicted to be associated to Gdap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Cellulitis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Thrombocytosi... OMIM:604416
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Isolated Osteopoikilosis
Keloids, Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Scle... ORPHA:166119
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Thrombocythemia 3
Thrombocytosis OMIM:614521
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Melorheostosis
Joint stiffness, Increased bone mineral density, Atypical scarring of skin, Failure to thrive, Ec... ORPHA:2485
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Anemia of inadequate production, Macrocytic a... OMIM:617780
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Failure to thrive, Hypoalbuminemia, Camptodactyly, Thrombocytopenia OMIM:608104
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia OMIM:618406
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Osteoporosis, Abnormal splee... ORPHA:398063
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Joint hypermobility, Hypo... OMIM:619013
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Poems Syndrome
Lipodystrophy, Hypothyroidism, Primary adrenal insufficiency, Sclerosis of foot bone, Thrombocyto... ORPHA:2905
Alg6-Cdg
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration, H... ORPHA:79320
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight, Hyp... OMIM:618347
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Osteopenia, Flexion contracture, Thrombocytosis, Abnormal subcutaneous fat tissue... OMIM:212065
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Cachexia, T... ORPHA:824
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resista... ORPHA:94089
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Hypoalbuminemia, Tremor OMIM:208920
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Hypocalcemia, Splenomegaly, Osteo... OMIM:259700
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Hypothyroidism ORPHA:79319
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Enamel hypoplasia, Thrombocytosis, Hypocalcemia, Osteoporosis, Thyroidi... OMIM:212750
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Sting-Associated Vasculopathy, Infantile-Onset
Joint stiffness, Leukopenia, Thrombocytosis, Elevated circulating C-reactive protein concentratio... OMIM:615934
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia, Hypogo... OMIM:617575
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Decreased body weight, Leukopenia, Hyperinsulinemia, Increased serum testo... ORPHA:2298
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Decrea... ORPHA:247585
Wolcott-Rallison Syndrome
Hypothyroidism, Decreased body weight, Hyponatremia, Central hypothyroidism, Neutropenia, Iron de... ORPHA:1667
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Joint hypermobility, Umbilic... OMIM:614856
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Immunodeficiency 92
Leukocytosis, Thrombocytosis, Osteomyelitis, B lymphocytopenia, Decreased proportion of class-swi... OMIM:619652
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholester... ORPHA:247598
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Albers-Schönberg Osteopetrosis
Recurrent fractures, Hypocalcemia, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Man... ORPHA:53
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Dystonia, Hepatosplenomegaly, Osteoporosis, Anemia, Failure to thrive, Hemolytic ... OMIM:619487
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Atypical scarring of... ORPHA:1306
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperu... ORPHA:94093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, ... ORPHA:37042
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Congenital hypoplastic anemia, Leukocytosis,... ORPHA:77297
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Fail... ORPHA:88618
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Arthritis, Hashimoto thyroiditis, Thr... OMIM:615688
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Splenomegaly, Neutropenia, Anemia, Hypoalbuminemia, Thrombocytop... OMIM:617303
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Laryngeal dystonia, Hyperpho... ORPHA:36913
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Enamel hypoplasia, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte... OMIM:243150
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Hype... OMIM:239000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Decr... ORPHA:89842
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Hepatocellular Carcinoma
Hypokalemia, Polycythemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemi... ORPHA:88673
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hyperuricemia, Weight loss, Hyperammonemia ORPHA:134
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Alg12-Cdg
Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, Failure to thrive, ... ORPHA:79324
Abetalipoproteinemia
Hypothyroidism, Osteopenia, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Acantho... ORPHA:14
Trichohepatoenteric Syndrome 1
Small for gestational age, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, F... OMIM:222470
Gaucher Disease Type 1
Pancytopenia, Osteopenia, Increased bone mineral density, Hypersplenism, Leukopenia, Osteoarthrit... ORPHA:77259
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Interstitial Lung And Liver Disease
Hypothyroidism, Thrombocytosis, Intraalveolar phospholipid accumulation, Anemia, Failure to thriv... OMIM:615486
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ... ORPHA:454836
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Thrombocytosis, Hyperuricemia, Anemia, Weight loss, Hyperammonemia ORPHA:20
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Cachexia, Hy... OMIM:610965
Amoebiasis Due To Entamoeba Histolytica
Anemia, Leukocytosis, Weight loss, Hypoalbuminemia ORPHA:67
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Sclerosis of skull base, Red... OMIM:131300
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Joint hemorrhage, Abnormal erythrocyte morphology, I... ORPHA:324636
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resistance to thyroid hormone... ORPHA:79443
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Brucellosis
Leukopenia, Hip osteoarthritis, Small for gestational age, Arthritis, Knee osteoarthritis, Thromb... ORPHA:1304
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Osteopenia, Small for gestational age, Slender build, Joint laxity, Hypocalcemia, T... OMIM:613658
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resistance to thyroid hormone... ORPHA:79444
Juvenile Polyposis Syndrome
Anemia, Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Enamel hypoplasia, Anemia, Failure to thrive, Hypoalbuminemia, Scarring, Atroph... ORPHA:79396
Syndromic Diarrhea
Hypothyroidism, Small for gestational age, Thrombocytosis, Splenomegaly, Abnormality of iron home... ORPHA:84064
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Abnormality of thrombocyte... OMIM:612840
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Osteoporosis, Conjuga... ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Joint stiffness, Leukopenia, Hernia, Hepatosplenomegaly, Anemia, Hypoalbumin... ORPHA:505248
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Thyroid lymphangiectasia, Hypoalbuminemia, Camptodactyly, Umbilical her... OMIM:235510
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Thickened ... OMIM:127000
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Abnormal dental e... ORPHA:1782
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Hypoalbuminemia, Hiatus hernia OMIM:617729
Galloway-Mowat Syndrome 1
Hiatus hernia, Dystonia, Small for gestational age, Hypoalbuminemia, Camptodactyly, Joint contrac... OMIM:251300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Hypoalbuminemia, Small for... OMIM:619055
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Al Amyloidosis
Howell-Jolly bodies, Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weig... ORPHA:85443
Pycnodysostosis
Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, ... ORPHA:763
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss ORPHA:71493
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Myelofibrosis, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative... ORPHA:3260
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Hypoalbuminemia, Cachexia, Refractory anemia ORPHA:79076
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Primary Sclerosing Cholangitis
Osteopenia, Weight loss, Hepatosplenomegaly, Osteoporosis, Splenomegaly, Thyroiditis, Hypoalbumin... ORPHA:171
12Q14 Microdeletion Syndrome
Failure to thrive, Abnormality of the spleen, Osteopoikilosis, Diabetes mellitus, Tremor ORPHA:94063
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Werner Syndrome
Lipodystrophy, Joint stiffness, Increased bone mineral density, Slender build, Osteoporosis, Lipo... ORPHA:902
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Decreased response... OMIM:241410
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density, Intent... ORPHA:33364
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Atypical Werner Syndrome
Sclerosis of hand bone, Osteoporosis, Chondrocalcinosis, Diabetes mellitus, Increased bone minera... ORPHA:79474
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Increased susceptibility to fractures, Splenomegaly... ORPHA:77261
Schwartz-Jampel Syndrome
Decreased body weight, Joint stiffness, Increased bone mineral density, Blepharospasm, Osteoporos... ORPHA:800
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Arthritis, Limitation of joint mobility, Odontodysplasia, Vertebral... ORPHA:89936
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Weight loss, Decreased proportion of naive T cells, Elevated circulating C-rea... OMIM:619381
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Desmosterolosis
Osteopetrosis, Failure to thrive, Splenomegaly, Increased bone mineral density ORPHA:35107
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, Abnormal dental enamel morphology, Hypoparathyroidism, Hyper... ORPHA:2323
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Coronal craniosynostosis, Impaired platelet aggrega... ORPHA:2968
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Femoral hernia, Facial hyperostosis, Inguin... ORPHA:2658
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Increased bone mineral density, Osteomyelitis,... ORPHA:35687
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Omphalocele, Failu... ORPHA:90652
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Arthrogryposis multiplex congenita, Enamel hypo... OMIM:259775
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Arthrogryposis multiplex congenita, Abnormal circu... OMIM:602398
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Failure to thrive, Hypochromic anemia, Leukocytosis OMIM:618213
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Recurrent fractures, Hypocalcemia, Secondary hyperparathyroidism, Eleva... ORPHA:2785
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Diabetes insipidus, Anterior pituitary ... OMIM:619534
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Doors Syndrome
Thrombocytosis, Sagittal craniosynostosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Hypocalcemia, Splenomegaly, Anemia, Osteopetrosis, Reduced... ORPHA:667
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Hyperoxaluria, Pathologic fracture OMIM:259900
Pmm2-Cdg
Lipodystrophy, Hypogonadotropic hypogonadism, Osteopenia, Multiple joint contractures, Hyperinsul... ORPHA:79318
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis OMIM:612301
Williams Syndrome
Hypothyroidism, Failure to thrive in infancy, Osteoporosis, Inguinal hernia, Tremor, Increased bo... ORPHA:904
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures, Hyperoxaluria ORPHA:416
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly, Cachexia ORPHA:75565
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull... OMIM:269150
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis OMIM:618369

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 Gdap2

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 Gdap2.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gdap2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gdap2em1(IMPC)Wtsi PMC6671969

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gdap2tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gdap2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gdap2em1(IMPC)Wtsi Deletion Mice
Gdap2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gdap2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gdap2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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