Phenotypes associated with this allele

• Allele Symbol: Lyst^bg-J
• Allele Name: beige Jackson
• Allele ID: MGI:1855969
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lyst^bg-J/Lyst^bg-J	C57BL/6J-Lyst^bg-J/J	MGI:3581179
cx2	Lyst^bg-J/Lyst^bg-J Prkdc^scid/Prkdc^scid	B6.Cg-Lyst^bg-J Prkdc^scid/Sz	MGI:3760873

Genotype
MGI:3581179

hm1

• 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

Genotype
MGI:3760873

cx2

• Allelic Composition: Lyst^bg-J/Lyst^bg-J; Prkdc^scid/Prkdc^scid
• Genetic Background: B6.Cg-Lyst^bg-J Prkdc^scid/Sz

immune system

abnormal thymus morphology ( J:34814 )

• thymus consists of reticular tissues and some cysts

small thymus ( J:34814 )

thymus cyst ( J:34814 )

abnormal granulocyte morphology ( J:34814 )

• granulocytes are characterized by giant lysosomal sudanophilic granules

increased granulocyte number ( J:34814 )

• Gr1+ splenic and bone marrow granulocytes are increased by almost 9 fold in comparison to control in 10-14 week old mice and continue increasing with age

increased eosinophil cell number ( J:34814 )

abnormal neutrophil morphology ( J:34814 )

• neutrophil lysosomal extracts have decreased elastase activity

increased neutrophil cell number ( J:34814 )

increased NK cell number ( J:34814 )

• NK1.1+ splenic cells are increased by 10 fold in comparison to control in 10-14 week old mice, however, numbers are reduced in 10-12 month old mice

decreased lymphocyte cell number ( J:34814 )

• percentages of circulating lymphocytes are significantly decreased in comparison to control

decreased B cell number ( J:34814 )

• B220+ splenic B cells are decreased (53.0% vs. 5.0%) in comparison to C57BL/6 control in 10-14 week old mice

decreased pre-B cell number ( J:34814 )

• there is a significant absence of splenic B cells bearing the Ig kappa light chain (40.0% vs. 2.0%) in 10-14 week old mice

decreased T cell number ( J:34814 )

• significant numbers of CD3+ splenic T cells are absent in comparison to control (37.1% vs. <0.1%) in 10-14 week old mice

• in 10-12 month old mice, CD3+ cells increase in number (42.4% vs 12.6%)

decreased CD4-positive, alpha-beta T cell number ( J:34814 )

• in addition, existing CD4+ cells are not CD3+CD4+

decreased CD8-positive, alpha-beta T cell number ( J:34814 )

• in addition, existing CD8+ cells are not CD3+CD8+ in 10-14 week old mice

• numbers of CD8+ cells increase substantially in 10-12 month old mice (14.1% vs 18.5%), however only half of CD8+ cells are CD3+

increased macrophage cell number ( J:34814 )

• F4/80+ splenic macrophages are increased by 6 fold in comparison to control in 10-14 week old mice, however numbers are reduced in 10-12 month old mice

increased monocyte cell number ( J:34814 )

spleen hypoplasia ( J:34814 )

• homozygotes have five fold reduction in spleen cellularity at 10-14 weeks old as compared to controls

• mice aged to 10-12 months have some increase in cellularity, but it remains less than half that of control mice

abnormal spleen white pulp morphology ( J:34814 )

• follicles are absent

decreased immunoglobulin level ( J:34814 )

• 5/12 mice produce greater than 1 ug/ml serum Ig between 1-29 weeks of age, however, between 30-57 weeks of age all mice produce greater than 1 ug/ml (ranging from 2-30 ug/ml)

impaired natural killer cell mediated cytotoxicity ( J:34814 )

• NK cell activity is markedly decreased in comparison to B6 control, however, it is elevated in comparison to Lyst^bg-J homozygotes

abnormal Peyer's patch morphology ( J:34814 )

• patches contain few lymphoid cells

small Peyer's patches ( J:34814 )

abnormal lymph node morphology ( J:34814 )

• follicles are absent

abnormal level of surface class II molecules ( J:34814 )

• class II expression is reduced 7 fold on spleen cells in 10-14 week old mice

abnormal complement pathway ( J:34814 )

• serum complement activity is markedly elevated in comparison to control

hematopoietic system

abnormal thymus morphology ( J:34814 )

• thymus consists of reticular tissues and some cysts

small thymus ( J:34814 )

thymus cyst ( J:34814 )

abnormal granulocyte morphology ( J:34814 )

• granulocytes are characterized by giant lysosomal sudanophilic granules

increased granulocyte number ( J:34814 )

• Gr1+ splenic and bone marrow granulocytes are increased by almost 9 fold in comparison to control in 10-14 week old mice and continue increasing with age

increased eosinophil cell number ( J:34814 )

abnormal neutrophil morphology ( J:34814 )

• neutrophil lysosomal extracts have decreased elastase activity

increased neutrophil cell number ( J:34814 )

increased NK cell number ( J:34814 )

• NK1.1+ splenic cells are increased by 10 fold in comparison to control in 10-14 week old mice, however, numbers are reduced in 10-12 month old mice

decreased lymphocyte cell number ( J:34814 )

• percentages of circulating lymphocytes are significantly decreased in comparison to control

decreased B cell number ( J:34814 )

• B220+ splenic B cells are decreased (53.0% vs. 5.0%) in comparison to C57BL/6 control in 10-14 week old mice

decreased pre-B cell number ( J:34814 )

• there is a significant absence of splenic B cells bearing the Ig kappa light chain (40.0% vs. 2.0%) in 10-14 week old mice

decreased T cell number ( J:34814 )

• significant numbers of CD3+ splenic T cells are absent in comparison to control (37.1% vs. <0.1%) in 10-14 week old mice

• in 10-12 month old mice, CD3+ cells increase in number (42.4% vs 12.6%)

decreased CD4-positive, alpha-beta T cell number ( J:34814 )

• in addition, existing CD4+ cells are not CD3+CD4+

decreased CD8-positive, alpha-beta T cell number ( J:34814 )

• in addition, existing CD8+ cells are not CD3+CD8+ in 10-14 week old mice

• numbers of CD8+ cells increase substantially in 10-12 month old mice (14.1% vs 18.5%), however only half of CD8+ cells are CD3+

increased macrophage cell number ( J:34814 )

• F4/80+ splenic macrophages are increased by 6 fold in comparison to control in 10-14 week old mice, however numbers are reduced in 10-12 month old mice

increased monocyte cell number ( J:34814 )

spleen hypoplasia ( J:34814 )

• homozygotes have five fold reduction in spleen cellularity at 10-14 weeks old as compared to controls

• mice aged to 10-12 months have some increase in cellularity, but it remains less than half that of control mice

abnormal spleen white pulp morphology ( J:34814 )

• follicles are absent

decreased immunoglobulin level ( J:34814 )

• 5/12 mice produce greater than 1 ug/ml serum Ig between 1-29 weeks of age, however, between 30-57 weeks of age all mice produce greater than 1 ug/ml (ranging from 2-30 ug/ml)

impaired natural killer cell mediated cytotoxicity ( J:34814 )

• NK cell activity is markedly decreased in comparison to B6 control, however, it is elevated in comparison to Lyst^bg-J homozygotes

endocrine/exocrine glands

abnormal thymus morphology ( J:34814 )

• thymus consists of reticular tissues and some cysts

small thymus ( J:34814 )

thymus cyst ( J:34814 )

growth/size/body

thymus cyst ( J:34814 )