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Animal Models For Muscular Dystrophy
Animal Models For Muscular Dystrophy
Vincenzo Nigro
Laboratorio di genetica - Dipartimento di Patologia Generale, Seconda
Università degli Studi di Napoli
Telethon Institute of Genetics and Medicine, Napoli
muscular dystrophy
• CK (50x to 1.000x)
C57 mdx
but
• Fibrosis is only in diaphragm
• Absolute muscle force of limb muscles remains similar to unaffected
mice
• Lifespan is shorter but no so much (-19% in males)
• it has muscle regeneration with an expansion of the satellite cell
population and muscle hypertrophy
• mdx lacking the muscle-specific transcription factor MyoD or myocyte
nuclear factor (expressed in the satellite cells) show more severe MD
Dog Cow Cat Pig Horse Sheep Chicken Goat Rabbit Other TOTAL
Total Phenes 489 376 280 215 193 186 179 70 49 456 2581
10 records found
OMIA 000679 Muscular dystrophy in Gallus gallus (chicken)
Sub-type: Abnormal muscle; AM
Genes: WWP1
OMIA 000679 Muscular dystrophy in Canis familiaris (dog)
OMIA 000679 Muscular dystrophy in Ovis aries (sheep)
OMIA 000679 Muscular dystrophy in Meleagris gallopavo (turkey)
OMIA 000679 Muscular dystrophy in Mustela lutreola (European mink)
OMIA 000679 Muscular dystrophy in Felis catus (cat)
OMIA 001081 Muscular dystrophy, Duchenne and Becker types in Felis catus (cat)
Genes: DMD
OMIA 001081 Muscular dystrophy, Duchenne and Becker types in Canis familiaris (dog)
Sub-type: X-linked muscular dystrophy
OMIA 000681 Muscular dystrophy, dysphagia-associated in Canis familiaris (dog)
OMIA 000828 Progressive muscular dystrophy in Mustela lutreola (European mink European mink)
Golden retriever dog with muscular
dystrophy (GRMD)
• gradual weakness
and loss of muscle
mass
• development of
contractures, skeletal
deformities
• significant phenotypic
variability among
litters
Spitz dogs
• Becker-like dystrophy with a truncated form of
dystrophin was recently identified in a family of
Japanese Spitz dogs
LGMD forms
• no defect in muscle
• nNOS and aquaporin-4 are displaced, like in mdx
• aquaporin KO are also normal
• nNOS KO are normal
• nNOS(-/-)/mdx are = mdx
alfa-dystrobrevin -/- mouse
a b g d
e b z d
e b g d
K.O. of the e-sarcoglycan gene
(+/-)
(+/+)
cardiomyopathy hamsters (886 items)