Mouse Genome Informatics
hm
    Lystbg-J/Lystbg-J
C57BL/6J-Lystbg-J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%)
• granulocytes are characterized by giant lysosomal sudanophilic granules
• neutrophil lysosomal extracts have decreased elastase activity
• NK cell activity is decreased in comparison to B6 control

hematopoietic system
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%)
• granulocytes are characterized by giant lysosomal sudanophilic granules
• neutrophil lysosomal extracts have decreased elastase activity
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• less than 1% of normal platelet serotonin levels
• NK cell activity is decreased in comparison to B6 control

homeostasis/metabolism
• less than 1% of normal platelet serotonin levels
• bleed time averaging over 11 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cellular
• thrombin stimulation of platelets results in approximately half normal levels of secretion of beta-glucuronidase and beta-galactosidase

vision/eye
N
• do not develop glaucoma (J:173521)
• no optic nerve damage (J:173521)
• accumulation of pigment and debris
• enlarged melanosomes present
• iris pigment is very dark and dispersed (J:141035)
• dark gray (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)
• dysmorphic iris stroma (J:173521)
• anterior iris stroma thinned (J:173521)
• concentric periodic iris transillumination (J:173521)
• accumulation of exfoliated materials throughout the anterior chamber
• pigment engulfed macrophage and enlarged melanosomes

behavior/neurological
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli
• fine sustained tremors are observed by 17 months of age
• obvious by 17 months of age
• mice lose the ability to swim by 17 months of age
• motor weakness is noticeable in the hind legs by 17 months of age
• an impaired gait is obvious by 17 months of age

nervous system
• there is a complete or nearly complete loss of cells in mice showing neurological symptoms by 17 months of age
• mice in the second year of life and without abnormal neurological behavior have a significant reduction of cells

hearing/vestibular/ear
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli

pigmentation
• enlarged melanosomes present
• iris pigment is very dark and dispersed (J:141035)
• dark gray (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)

Mouse Models of Human Disease
OMIM IDRef(s)
Exfoliation Syndrome; XFS 177650 J:173521
Storage Pool Platelet Disease 185050 J:7327