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Phenotypes Associated with This Genotype
Genotype
MGI:6093458
Allelic
Composition
Fkrptvrm53/Fkrptvrm53
Genetic
Background
C57BL/6J-Fkrptvrm53/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkrptvrm53 mutation (1 available); any Fkrp mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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
• immunohistochemistry for glial fibrillary acidic protein indicates Muller cell activation as early as 1 months of age

muscle
• 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

vision/eye
• aberrant vascular formations, excess and tortuous retinal vessels, and vascular structures are found in the vitreous where the inner nuclear layer is disrupted
• immunohistochemistry for glial fibrillary acidic protein indicates Muller cell activation as early as 1 months of age
• thin as early as 1 month of age
• as early as 1 month of age
• 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
• dark-adapted electroretinograms show an increased b-wave at low flash levels and a decreased b-wave at high flash levels
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory