- increased circulating alanine transaminase level / IMPC
- increased lean body mass / IMPC
- increased circulating serum albumin level / IMPC
- decreased total body fat amount / IMPC
- decreased mean corpuscular volume / IMPC
- decreased mean corpuscular hemoglobin / IMPC
- thrombocytosis / IMPC
- decreased bone mineral content / IMPC
- increased red blood cell distribution width / IMPC
- increased circulating aspartate transaminase level / IMPC
- increased circulating total protein level / IMPC
- abnormal bone structure / IMPC
- decreased grip strength / IMPC
- increased circulating alkaline phosphatase level / IMPC
STOCK Dmdmdx Tg(ACTA1-Utrn)3Ked/H
Status | Available to order |
EMMA ID | EM:02219 |
International strain name | STOCK Dmdmdx Tg(ACTA1-Utrn)3Ked/H |
Alternative name | TgN(FLU)Ox, Freddie |
Strain type | Transgenic Strains |
Allele/Transgene symbol | Tg(ACTA1-Utrn)3Ked, Dmdmdx |
Gene/Transgene symbol | Tg(ACTA1-Utrn)3Ked, Dmd |
Information from provider
Provider | Kay Davies |
Provider affiliation | University of Oxford |
Genetic information | Pronuclear injection of full length utrophin cDNA into (C57BL/6 x CBA/CA)F2 oocytes. |
Phenotypic information | Human skeletal alpha-actin promotes the expression of full-length utrophin in skeletal, heart and diaphragm muscles. |
References |
|
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Duchenne muscular dystrophy / Orphanet_98896
- Becker muscular dystrophy / Orphanet_98895
- X-linked non-syndromic intellectual disability / Orphanet_777
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers / Orphanet_206546
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- abnormal skeletal muscle fiber morphology / MGI
- dystrophic muscle / MGI
- abnormal circulating pyruvate kinase level / MGI
- muscle degeneration / MGI
- myopathy / MGI
- reduced female fertility / MGI
- abnormal muscle physiology / MGI
- abnormal muscle morphology / MGI
- muscular atrophy / MGI
- skeletal muscle necrosis / MGI
- dilated sarcoplasmic reticulum / MGI
- increased variability of skeletal muscle fiber size / MGI
- skeletal muscle fibrosis / MGI
- increased circulating creatine kinase level / MGI
- decreased aerobic running capacity / MGI
- increased skeletal muscle mass / MGI
- increased growth hormone level / MGI
- muscle phenotype / MGI
- adipose tissue phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- myocardial necrosis / MGI
- abnormal corticotroph morphology / MGI
- increased somatotroph cell size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- increased skeletal muscle fiber number / MGI
- skeletal muscle fiber necrosis / MGI
- increased quadriceps weight / MGI
- increased skeletal muscle weight / MGI
- enlarged heart / MGI
- increased body size / MGI
- impaired coordination / MGI
- abnormal grip strength / MGI
- impaired skeletal muscle contractility / MGI
- calcified muscle / MGI
- decreased cardiac output / MGI
- myositis / MGI
- increased susceptibility to noise-induced hearing loss / MGI
- decreased cardiac muscle contractility / MGI
- cardiomyopathy / MGI
- cardiovascular system phenotype / MGI
- increased tumor necrosis factor secretion / MGI
- increased interferon-gamma secretion / MGI
- increased interleukin-12 secretion / MGI
- increased interleukin-2 secretion / MGI
- increased interleukin-4 secretion / MGI
- increased interleukin-6 secretion / MGI
- increased skeletal muscle fiber diameter / MGI
- skeletal muscle degeneration / MGI
- skeletal muscle hypertrophy / MGI
- decreased grip strength / MGI
- decreased cardiac stroke volume / MGI
- abnormal auditory brainstem response waveform shape / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal skeletal muscle regeneration / MGI
- increased creatine kinase activity / MGI
- decreased body size / MGI
- heart inflammation / MGI
- dystrophic cardiac calcinosis / MGI
- decreased skeletal muscle mass / MGI
- decreased skeletal muscle fiber size / MGI
- decreased skeletal muscle fiber diameter / MGI
- skeletal muscle fiber atrophy / MGI
- cardiac muscle degeneration / MGI
- skeletal muscle atrophy / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- abnormal diaphragm morphology / MGI
- abnormal intercostal muscle morphology / MGI
- nervous system phenotype / MGI
- abnormal muscle tone / MGI
- abnormal muscle electrophysiology / MGI
- abnormal muscle contractility / MGI
- decreased physiological sensitivity to xenobiotic / MGI
- abnormal skeletal muscle satellite cell proliferation / MGI
- skeletal muscle endomysial fibrosis / MGI
- anterior subcapsular cataracts / MGI
- nuclear cataracts / MGI
- abnormal scalene muscle morphology / MGI
- abnormal vertebral column morphology / MGI
- increased transforming growth factor level / MGI
- skeletal muscle fiber degeneration / MGI
- impaired exercise endurance / MGI
- muscle weakness / MGI
- decreased body weight / MGI
- decreased skeletal muscle fiber number / MGI
- increased total body fat amount / MGI
- decreased quadriceps weight / MGI
- decreased skeletal muscle weight / MGI
MGI phenotypes (gene matching)
- enlarged heart / MGI
- abnormal myocardial fiber morphology / MGI
- abnormal myogenesis / MGI
- increased satellite cell number / MGI
- abnormal muscle development / MGI
- muscle weakness / MGI
- muscle degeneration / MGI
- myopathy / MGI
- dystrophic muscle / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- decreased body weight / MGI
- increased body size / MGI
- decreased body size / MGI
- impaired coordination / MGI
- abnormal grip strength / MGI
- heart inflammation / MGI
- myocarditis / MGI
- reduced fertility / MGI
- reduced female fertility / MGI
- decreased litter size / MGI
- abnormal muscle physiology / MGI
- abnormal muscle morphology / MGI
- abnormal cardiovascular system morphology / MGI
- no abnormal phenotype detected / MGI
- muscular atrophy / MGI
- abnormal diaphragm morphology / MGI
- abnormal intercostal muscle morphology / MGI
- decreased susceptibility to viral infection / MGI
- dystrophic cardiac calcinosis / MGI
- impaired skeletal muscle contractility / MGI
- thick ventricular wall / MGI
- no phenotypic analysis / MGI
- decreased aerobic running capacity / MGI
- abnormal skeletal muscle fiber morphology / MGI
- abnormal heart atrium morphology / MGI
- calcified muscle / MGI
- decreased cardiac output / MGI
- nervous system phenotype / MGI
- skeletal muscle necrosis / MGI
- abnormal plasma membrane morphology / MGI
- prolonged P wave / MGI
- abnormal muscle fiber morphology / MGI
- dilated sarcoplasmic reticulum / MGI
- abnormal sarcolemma morphology / MGI
- abnormal muscle tone / MGI
- abnormal muscle electrophysiology / MGI
- abnormal myocardial fiber physiology / MGI
- myositis / MGI
- increased susceptibility to noise-induced hearing loss / MGI
- abnormal vertebral column morphology / MGI
- increased skeletal muscle mass / MGI
- decreased skeletal muscle mass / MGI
- increased growth hormone level / MGI
- decreased cardiac muscle contractility / MGI
- cardiomyopathy / MGI
- muscle phenotype / MGI
- adipose tissue phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- cardiovascular system phenotype / MGI
- abnormal Muller cell morphology / MGI
- abnormal muscle contractility / MGI
- myocardial necrosis / MGI
- retinal ischemia / MGI
- abnormal corticotroph morphology / MGI
- increased somatotroph cell size / MGI
- increased tumor necrosis factor secretion / MGI
- increased interferon-gamma secretion / MGI
- increased interleukin-12 secretion / MGI
- increased interleukin-2 secretion / MGI
- increased interleukin-4 secretion / MGI
- increased interleukin-6 secretion / MGI
- increased transforming growth factor level / MGI
- decreased physiological sensitivity to xenobiotic / MGI
- decreased skeletal muscle fiber size / MGI
- increased skeletal muscle fiber diameter / MGI
- decreased skeletal muscle fiber diameter / MGI
- increased variability of skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- increased skeletal muscle fiber number / MGI
- decreased skeletal muscle fiber number / MGI
- abnormal skeletal muscle satellite cell proliferation / MGI
- skeletal muscle fiber degeneration / MGI
- skeletal muscle fiber atrophy / MGI
- skeletal muscle fiber necrosis / MGI
- skeletal muscle degeneration / MGI
- cardiac muscle degeneration / MGI
- skeletal muscle atrophy / MGI
- skeletal muscle fibrosis / MGI
- skeletal muscle endomysial fibrosis / MGI
- skeletal muscle hypertrophy / MGI
- increased total body fat amount / MGI
- decreased grip strength / MGI
- increased circulating creatine kinase level / MGI
- abnormal circulating pyruvate kinase level / MGI
- increased quadriceps weight / MGI
- decreased quadriceps weight / MGI
- increased skeletal muscle weight / MGI
- decreased skeletal muscle weight / MGI
- anterior subcapsular cataracts / MGI
- nuclear cataracts / MGI
- prolonged QRS complex duration / MGI
- decreased P wave amplitude / MGI
- abnormal atrium myocardial trabeculae morphology / MGI
- preweaning lethality, incomplete penetrance / MGI
- decreased cardiac stroke volume / MGI
- abnormal auditory brainstem response waveform shape / MGI
- increased or absent threshold for auditory brainstem response / MGI
- impaired exercise endurance / MGI
- abnormal skeletal muscle regeneration / MGI
- increased creatine kinase activity / MGI
- abnormal scalene muscle morphology / MGI
Literature references
- Expression of full-length utrophin prevents muscular dystrophy in mdx mice.;Tinsley J, Deconinck N, Fisher R, Kahn D, Phelps S, Gillis J M, Davies K, ;1998;Nature medicine;4;1441-4; 9846586
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