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Overview
Get an overview of INFRAFRONTIER and everything around us.
INFRAFRONTIER Partners
These leading research institutions contribute to the resources and services of INFRAFRONTIER.
Collaborations
INFRAFRONTIER collaborates widely on the European and international level to enhance biomedical research.
Animal Welfare and Ethics
The welfare and ethical treatment of animal models in research is very important for INFRAFRONTIER.
Quality Management
Read more about INFRAFRONTIER approach to Quality.
Bibliography
INFRAFRONTIER bibliography and information about how to cite us.
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EMMA
EMMA Overview
Everything you need to know about the European Mouse Mutant Archive – EMMA.
Cryopreservation
EMMA archives your mouse/rat mutant free of charge.
Legal Questions
EMMA repository conditions, MTAs, policy on licensing and use restriction.
Strain Distribution
Access to over 8800 mouse mutants and a couple of tens of rat mutants.
Strain Collections
Strains originated by large-scale projects archived and distributed by EMMA.
Cryopreservation Protocols
Validated protocols and training videos.
Strain Search
Find the mutant strain you need for your research!
Services
Services Overview
INFRAFRONTIER offers a host of state-of-the-art services to the biomedical community with the aim to understand and combat human diseases.
Rodent Disease Model Generation
Generation of rodent models using latest genome-editing technologies.
Strain Distribution
Distribution of mutant mouse/rat lines around the globe as frozen gametes or live cohorts.
Cryopreservation
Archiving of mutant mouse/rat models generated by researchers around the world.
Systemic Phenotyping
Mouse model phenotyping platforms incorporating whole-system screens.
Axenic Service
Germ-free derivation of mouse strains for gnotobiotic studies.
Disease Areas
Specialised INFRAFRONTIER resources and services for specific disease areas.
News
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Popular Search Terms:
CD11
Rosa26
Cre
IMPC
EUCOMM
Immune
Hearing
Diabetes
Search results for "DOID:10652" in category
Diseases
(1 EMMA strains found)
EMMA ID
Strain name
Gene symbol
Disease count
EM:00303
B6.129P2-Psen1
tm1Bdes
/Cnrm
Psen1
6
Order (in stock)
Browse curated disease models
Cardiovascular system
Heart disease
Atrioventricular spetal defect
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Jervell-Lange Nielsen syndrome
Tetralogy of Fallot
Endocrine system
Parathyroid gland disease
Primary hyperaldosteronism
Adrenal gland disease
Hyperparathyroidism
Gastrointestinal system
Intestinal disease
Hirschsprung disease
Inflammatory bowel disease disease
Liver disease
Alagille syndrome
Primary billiary cirrhosis
Immune system
Hypersensitivity reaction disease
Autoimmune lymphoproliferative syndrome
Sjogren's syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Lymphatic system disease
Familial hemophagocytic lymphohistiocytosis 2
Hereditary lymphedema
Primary immunodeficiency disease
DNA ligase IV deficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Hematopoietic system
Anemia
Macrocytic anemia
Congenital nonspherocytic hemolytic anemia
Leukocyte disease
Hereditary neutrophilia
Severe congenital neutropenia
Blood coagulation disease
Gray platelet syndrome
Integumentary system
Skin disease
Epidermolysis bullosa simplex Dowling-Meara type
Epidermolytic hyperkeratosis
Erythrokeratodermia variabilis
Dermatitis
Pemphigus vulgaris
Musculoskeletal system
Connective tissue disease
Systemic lupus erythematosus
Congenital muscular dystrophy
Rigid spine muscular dystrophy 1
Muscle tissue
Myotonia congenita
Collagen disease
Ehlers-Danlos syndrome
systemic scleroderma
Bone disease
Autosomal recessive osteopetrosis 2
Clubfoot
Craniosynostosis
Crouzon syndrome
Muenke Syndrome
Osteogenesis imperfecta type
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Rheumatoid arthritis
Saethre-Chotzen syndrome
Spondyloepiphyseal dysplasia congenita
X-linked hypophosphatemic rickets
Nervous system
Neurodegenerative disease
Alzheimer's disease
Amyotrophic lateral sclerosis type 1
Autosomal recessive early-onset Parkinson disease 7
Multiple sclerosis
Parkinson disease
Peripheral nervous system disease
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease X-linked dominant 1
Brain disease
Basal ganglia calcification
Creutzfeldt-Jakob disease
Early infantile epileptic encephalopathy
Sensory system disease
Aniridia
Autosomal dominant nonsyndromic deafness 12
Autosomal dominant nonsyndromic deafness 36
Autosomal recessive nonsyndromic deafness 1A
Autosomal recessive nonsyndromic deafness 4A
Autosomal recessive nonsyndromic deafness 31
Autosomal recessive nonsyndromic deafness 7
Autosomal recessive nonsyndromic deafness 42
Cataract
Cataract 1 multiple types
Cataract 19 multiple types
Cataract 20 multiple types
Cataract 21 multiple types
Congenital stationary night blindness
Otitis media
Ocular albinism
Retinitis pigmentosa 40
Persistent hyperplastic primary vitreous
Respiratory system
Lung disease
Pulmonary alveolar proteinosis
Urinary system
Kidney disease
Liddle syndrome
Cellular proliferation
Cancer
Medulloblastoma
Familial chronic myelocytic leukemia-like syndrome
Breast cancer
Nevoid basal cell carcinoma syndrome
Colorectal cancer
Hepatocellular carcinoma
Stomach cancer
Benign neoplasm
Prolactinoma
Mental health
Developmental disorder of mental health
Attention deficit hyperactivity disorder
Cognitive disorder
Schizophrenia
Metabolism
Acquired metabolic disease
Familial hypocalciuric hypercalcemia 1
Metabolic syndrome X
Obesity
Diabetes mellitus
Transient neonatal diabetes mellitus
Type 1 diabetes mellitus
Inherited metabolic disorder
Alkaptonuria
Aspartylglucosaminuria
Cutaneous porphyria
Glycogen storage disease III
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 10
Favism
Genetic disease
Ciliopathy
Joubert syndrome 6
Meckel syndrome
Primary ciliary dyskinesia 7
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 2
Chondrodysplasia punctata
X-linked chondrodysplasia punctata
Monogenic disease
Branchiootorenal syndrome
Clouston syndrome<
Denys-Drash syndrome
Microphthalmia with limb anomalies
Nephronophthisis 2
Wiskott-Aldrich syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Xeroderma pigmentosum variant type
Syndrome
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome
CHARGE syndrome
CHARGE syndrome
Sudden infant death syndrome
Sudden infant death syndrome
Selected strain collections
IMPC/IKMC lines
Cre Driver lines
FLP Driver lines
TET-expression systems
Genome Editing Mice for Medicine – GEMM
Wellcome Trust Knockout Mouse Resource
PHENOMIN-ICS NR Collection
PHENOMIN-ICS Recombinase collection
Mosaic Analysis with Double Markers (MADM)
Rat strains
Curated Disease Models
There is no EMMA strain available for the term
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