Phenotypes Associated with This Genotype

Genotype
MGI:6093458

• Allelic Composition: Fkrp^tvrm53/Fkrp^tvrm53
• Genetic Background: C57BL/6J-Fkrp^tvrm53/Pjn

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal retina vasculature morphology ( J:243745 )

• aberrant vascular formations, excess and tortuous retinal vessels, and vascular structures are found in the vitreous where the inner nuclear layer is disrupted

nervous system

abnormal Muller cell morphology ( J:243745 )

• immunohistochemistry for glial fibrillary acidic protein indicates Muller cell activation as early as 1 months of age

muscle

centrally nucleated skeletal muscle fibers ( J:243745 )

• spinal muscles have fewer nuclei in the fiber periphery than are found in controls, indicative of regeneration in degenerating muscle, with an approximately 17-fold increased in the percentage of fibers with central nucleai

dystrophic muscle ( J:243745 )

vision/eye

abnormal retina vasculature morphology ( J:243745 )

• aberrant vascular formations, excess and tortuous retinal vessels, and vascular structures are found in the vitreous where the inner nuclear layer is disrupted

abnormal Muller cell morphology ( J:243745 )

• immunohistochemistry for glial fibrillary acidic protein indicates Muller cell activation as early as 1 months of age

abnormal retina inner nuclear layer morphology ( J:243745 )

thin retina inner nuclear layer ( J:243745 )

• thin as early as 1 month of age

thin retina outer nuclear layer ( J:243745 )

• as early as 1 month of age

vitreal fibroplasia ( J:243745 )

increased a-wave amplitude ( J:243745 )

• under dark-adapted conditions, although similar to wildtype controls at high flash levels, the a-waves are larger than normal at intermediate flash levels with a slower onset of the b-wave

abnormal b-wave amplitude ( J:243745 )

• dark-adapted electroretinograms show an increased b-wave at low flash levels and a decreased b-wave at high flash levels

abnormal cone electrophysiology ( J:243745 )

• light-adapted electroretinograms show a reduced response across all stimulus conditions assessed, but this is less severe than that seen in mutants of Large1 or Egflam

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy		DOID:9884	OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416	J:243745