Phenotypes Associated with This Genotype

Genotype
MGI:3581179

• Allelic Composition: Lyst^bg-J/Lyst^bg-J
• Genetic Background: C57BL/6J-Lyst^bg-J/J

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

immune system

abnormal granulocyte morphology ( J:34814 )

• granulocytes are characterized by giant lysosomal sudanophilic granules

abnormal neutrophil morphology ( J:34814 )

• neutrophil lysosomal extracts have decreased elastase activity

decreased macrophage cell number ( J:34814 )

• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%)

impaired natural killer cell mediated cytotoxicity ( J:34814 )

• NK cell activity is decreased in comparison to B6 control

hematopoietic system

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

abnormal granulocyte morphology ( J:34814 )

• granulocytes are characterized by giant lysosomal sudanophilic granules

abnormal neutrophil morphology ( J:34814 )

• neutrophil lysosomal extracts have decreased elastase activity

decreased platelet ADP level ( J:7327 )

• platelet ADP levels are much lower than in C57BL/6J controls

decreased platelet serotonin level ( J:7327 )

• less than 1% of normal platelet serotonin levels

decreased macrophage cell number ( J:34814 )

• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%)

impaired natural killer cell mediated cytotoxicity ( J:34814 )

• NK cell activity is decreased in comparison to B6 control

homeostasis/metabolism

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

decreased platelet serotonin level ( J:7327 )

• less than 1% of normal platelet serotonin levels

increased bleeding time ( J:7327 )

• bleed time averaging over 11 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cellular

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

decreased lysosomal enzyme secretion ( J:7327 )

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

vision/eye

vision/eye phenotype ( J:173521 )

N • do not develop glaucoma

N • no optic nerve damage

abnormal anterior uvea morphology ( J:173521 )

abnormal iridocorneal angle ( J:173521 )

• accumulation of pigment and debris

abnormal iris morphology ( J:173521 )

abnormal iris pigment epithelium ( J:173521 )

• enlarged melanosomes present

abnormal iris pigmentation ( J:141035 , J:173521 , J:173521 )

• iris pigment is very dark and dispersed (J:141035)

• pronounced pigment dispersion by 3 months (J:173521)

• sawtooth-like morphology of iris pigment (J:173521)

• dark gray (J:173521)

abnormal iris stroma morphology ( J:173521 , J:173521 )

• dysmorphic iris stroma (J:173521)

• anterior iris stroma thinned (J:173521)

• concentric periodic iris transillumination (J:173521)

abnormal eye anterior chamber morphology ( J:173521 )

• accumulation of exfoliated materials throughout the anterior chamber

• pigment engulfed macrophage and enlarged melanosomes

behavior/neurological

abnormal vestibuloocular reflex ( J:29747 )

• 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

tremors ( J:15166 )

• fine sustained tremors are observed by 17 months of age

impaired balance ( J:15166 )

• obvious by 17 months of age

impaired swimming ( J:15166 )

• mice lose the ability to swim by 17 months of age

abnormal gait ( J:15166 )

• an impaired gait is obvious by 17 months of age

paraparesis ( J:15166 )

• motor weakness is noticeable in the hind legs by 17 months of age

nervous system

decreased Purkinje cell number ( J:15166 )

• 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

abnormal vestibuloocular reflex ( J:29747 )

• 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

abnormal iris pigment epithelium ( J:173521 )

• enlarged melanosomes present

abnormal iris pigmentation ( J:141035 , J:173521 , J:173521 )

• iris pigment is very dark and dispersed (J:141035)

• pronounced pigment dispersion by 3 months (J:173521)

• sawtooth-like morphology of iris pigment (J:173521)

• dark gray (J:173521)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
exfoliation syndrome		DOID:13641	OMIM:177650	J:173521
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327