Gene Summary

Name:
glomulin, FKBP associated protein
Synonyms:
9330160J16Rik,  Fap68,  Fap48

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
preweaning lethality, complete penetrance Glmnem1(IMPC)Bay HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Glmnem1(IMPC)Bay HOM   E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Glomuvenous Malformations
OMIM:138000
Glomuvenous Malformation
ORPHA:83454

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteoporosis
Osteoporosis OMIM:166710
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Ventricular hypertrophy, Atr... OMIM:115197
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... ORPHA:1041
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Short stature, Mitral reg... ORPHA:363705
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right ventricular h... ORPHA:555874
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Edema, Pericardial effusion, Ascites OMIM:608776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... ORPHA:199241
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Small vessel vasculit... ORPHA:36412
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ventricular septal defect, Pericardial effusion, Atrial septal... OMIM:235510
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema... OMIM:619487
Alkuraya-Kucinskas Syndrome
Edema, Hydrocephalus, Pericardial effusion OMIM:617822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... OMIM:259700
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent fractur... ORPHA:53
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Gaucher Disease Type 1
Growth delay, Pericardial effusion, Ascites, Pulmonary arterial hypertension, Abnormal myocardium... ORPHA:77259
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Acute Interstitial Pneumonia
Hypertension, Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Primary Intestinal Lymphangiectasia
Pericardial effusion, Growth delay, Ascites, Edema, Pleural effusion, Generalized edema ORPHA:90362
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Edema, Raynaud phenomenon, Pleural effusion ORPHA:93552
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia OMIM:618183
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Gaucher Disease Type 3
Growth delay, Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, ... ORPHA:77261
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Poems Syndrome
Pericardial effusion, Ascites, Edema, Pulmonary arterial hypertension, Pleural effusion ORPHA:2905
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Pleural effusion ORPHA:464329
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... ORPHA:77297
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Short stature, Patent ductus arteriosus, Postnatal growth ret... ORPHA:1272
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, V... ORPHA:781
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion OMIM:212065
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion OMIM:108050
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal heart mor... ORPHA:79328
Myhre Syndrome
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, S... OMIM:139210
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Camurati-Engelmann Disease
Sclerosis of skull base, Increased bone mineral density, Cortical thickening of long bone diaphys... OMIM:131300
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... ORPHA:358
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... ORPHA:73224
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Tsh-Secreting Pituitary Adenoma
Hypertension, Pericardial effusion, Ventricular arrhythmia, Palpitations, Delayed puberty, Conges... ORPHA:91347
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Chédiak-Higashi Syndrome
Edema, Epistaxis, Pleural effusion, Pericardial effusion ORPHA:167
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Gastrointestinal hemorrhage, Hydrocephalus, Chylothorax ORPHA:538
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Hennekam Syndrome
Lymphedema, Mild postnatal growth retardation, Pericardial effusion, Ascites, Hydrops fetalis, Ch... ORPHA:2136
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Trichothiodystrophy
Multiple joint contractures, Craniosynostosis, Increased bone mineral density, Osteopenia ORPHA:33364
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Arthrogr... ORPHA:800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Generalized Arterial Calcification Of Infancy
Hypertension, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrophy, E... ORPHA:51608
Gaucher Disease
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... ORPHA:355
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Lipomyelomeni... ORPHA:268810
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... ORPHA:79443
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Erdheim-Chester Disease
Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral densit... ORPHA:79474
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Williams Syndrome
Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Increased bone mineral density, Joi... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis ORPHA:2785
Pmm2-Cdg
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Pericardial effusion, Angina ... ORPHA:79318
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones OMIM:269150
Semilobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93924
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Glomuvenous Malformations
OMIM:138000
Glomuvenous Malformation
ORPHA:83454

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 Glmn

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 Glmn.

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

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MGI Allele Allele Type Produced
Glmntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glmnem1(IMPC)Bay Exon Deletion Mice
Glmntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glmntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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