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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lystbg
beige
MGI:1855968
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lystbg/Lystbg B6.C3Rl-Lystbg MGI:2656344
hm2
Lystbg/Lystbg B6.C3Rl-Lystbg/J MGI:3588316
cx3
Foxq1sa/Foxq1sa
Lystbg/Lystbg
involves: 101/Rl * C3H/Rl * C57BL10/Rl MGI:3847105
cx4
Foxq1sa/Foxq1sa
Lystbg/Lystbg
involves: 101/Rl * C3H/Rl * C57BL/6J * C57BL10/Rl MGI:3847098
cx5
a/a
Lystbg/Lystbg
Oca2p-J/Oca2p-J
involves: C3H/HeJ * C3H/Rl * C57BL/6J MGI:4454430
cx6
a/a
Lystbg/Lystbg
Tyrp1b/Tyrp1b
involves: C3H/Rl * C57BL/6J MGI:4454432
cx7
a/a
Hps6ru/Hps6ru
Lystbg/Lystbg
involves: C3H/Rl * C57BL/6J MGI:4454431
cx8
a/a
Hps6ru-5J/Hps6ru-5J
Lystbg/Lystbg
involves: C3H/Rl * C57BL/6J MGI:4453444
cx9
a/a
Lystbg/Lystbg
involves: C3H/Rl * C57BL/6J MGI:4454426
cx10
a/a
Lystbg/Lystbg
Tyrc/Tyrc
involves: C3H/Rl * C57BL/6J MGI:4454429
cx11
A/?
Lystbg/Lystbg
Tyrp1+/?
Not Specified MGI:4453314
cx12
A/?
Lystbg/Lystbg
Tyrp1b/Tyrp1b
Not Specified MGI:2654822
cx13
Lystbg/Lystbg
Prkdcscid/Prkdcscid
Not Specified MGI:3848455


Genotype
MGI:2656344
hm1
Allelic
Composition
Lystbg/Lystbg
Genetic
Background
B6.C3Rl-Lystbg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• total weight of kidney is higher in mutants than in wild-type mice after androgen treatment

neoplasm
• a tumor line modified to be sensitive to NK cytotoxicity transplanted in mutants results in increased growth rate, faster induction time and an increased metastatic capability of the tumor
• mutants transplanted with virally and chemically induced leukemias develop palpable, progressively growing tumors faster and at a higher frequency than heterozygous controls

pigmentation
• all mice display giant, irregular melanin granules in retinal and choroidal melanocytes; not observed in control mice
• unlike in control mice where mature eumelanin granules from skin, hair and eye are small, ovoid, deeply pigmented and 1-2 micra in diameter, giant melanin granules present in mutant mice are highly irregular and 2-10 micra in diameter (J:5078)
• melanosomes are obviously enlarged and often aggregated (J:5338)
• all mice display giant and irregular melanin granules in the medulla and cortex of hairs; not observed in control mice
• melanosomes are obviously enlarged

cellular
• abnormal lysosomes with high levels of acid phospahatse activity are detected in 15 of 23 tissues examined, including the liver, kidney, pancreas, cerebral cortex, cerebellum, spinal cord, bone marrow, peripheral blood, jejunum, as well as the thyroid, adrenal, gastic, lacrimal, submaxillary glands and sweat glands of the footpad (J:5338)
• anomalous lysosomes are enlarged, often more variable in size and shape and show a tendency to aggregate (J:5338)
• the extent of anomaly varies from one tissue to another and within cells of a given tissue, ranging from extensive enlargement and aggregation of lysosomes in liver to a slight increase in size in sweat glands of the footpad (J:5338)
• the most striking alterations occur in liver parenchymal cells, kidney proximal tubule cells, Purkinje cells of cerebellum, and granulocytes of bone marrow and peripheral blood; no acid phosphatase activity was detected in melanocytes of the eye and skin where melanin granules have not been established as lysosomes (J:5338)
• electron microscopy of liver and kidney revealed enlarged lysosomes containing numerous lipid-like inclusions (J:5338)
• no alterations in lysosomal morphology are detected in striated muscle, duodenum, esophagus, epididymis, spleen or spleen node (J:5338)
• mutants exhibit fusion of newly formed lysosomes in the promocytes and neutrophilic progranulocytes and in mature monocytes, neutrophils, and eosinophils, resulting in fewer but greatly enlarged lysosomes (J:5514)
• androgen-stimulated mutants exhibit an accumulation of giant glucuronidase-containing lysosomes in tubule cells near the croticomedullary boundary of the kidney
• mutants secrete fewer units of glucuronidase, beta-galactosidase, and hexosaminidase than controls
• androgen-treated mutants secrete only 1/3-1/4 as much of the above lysosomal enzymes as controls
• androgen-stimulated mutants exhibit an accumulation of the lysosomal enzymes, beta-glucuronidase, beta-galactosidase, and N-acetyl-beta-D-glucosaminidase (hexosaminidase) in the kidneys, indicating defective process of extruding lysosomal enzymes through the plasma membrane of kidney tubule cells

hematopoietic system
• all mice display giant granules in eosinophils from peripheral blood and bone marrow; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• giant granules are highly irregular and contain excessive numbers of clumped "crystalloids"
• all mice display giant granules in neutrophils from peripheral blood and bone marrow; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• all mice display giant granules in lymphocytes from peripheral blood and bone marrow, with an inner round density; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• natural killer cell lysis activity toward tumor cells is impaired (J:6302)
• spleen cells fail to lyse a variety of natural killer cell sensitive targets, indicating impaired NK cytolysis (J:6213)
• generation of cytotoxic T lymphocytes (CTLs) in response to alloimmune challenge in vivo or in vitro is impaired

immune system
• all mice display giant granules in eosinophils from peripheral blood and bone marrow; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• giant granules are highly irregular and contain excessive numbers of clumped "crystalloids"
• all mice display giant granules in neutrophils from peripheral blood and bone marrow; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• all mice display giant granules in lymphocytes from peripheral blood and bone marrow, with an inner round density; not observed in control mice
• giant granules are found in a small percentage of cells, usually only 1 or 2 within a cell
• natural killer cell lysis activity toward tumor cells is impaired (J:6302)
• spleen cells fail to lyse a variety of natural killer cell sensitive targets, indicating impaired NK cytolysis (J:6213)
• generation of cytotoxic T lymphocytes (CTLs) in response to alloimmune challenge in vivo or in vitro is impaired
• inflammation with infiltration of lymphocytes and macrophages in aged mice

renal/urinary system
• androgen-stimulated mutants exhibit an accumulation of giant glucuronidase-containing lysosomes in tubule cells near the croticomedullary boundary of the kidney
• total weight of kidney is higher in mutants than in wild-type mice after androgen treatment
• lower levels of urinary lysosomal enzymes

nervous system
• infrapyramidal mossy fiber layers within area CA3 of the hippocampus appear to consist of discontinuous clumpings of diffusely scattered small bundles
• infrapyramidal mossy fiber bundles originate from unrelated areas of the dentate gyrus instead of within the suprapyramidal mossy fiber layers as in controls
• the pyramidal cell layer is distorted within the CA3 area and appears as cell free-spaces within the cell layer or as few pyramidal cells ectopically scattered in the stratum orients
• a few pyramidal cells are ectopically scattered in the stratum orients
• arrangement of the Bergmann cells is more dispersed than in controls and a few ectopic Bergmann cells are located in the upper portion of the molecular layer
• ectopic Purkinje cells, mostly found in the lower half of the molecular layer as single cells
• clusters of ectopic granule cells in the molecular layer

behavior/neurological
• mutants exhibit increased sleeping time and prolonged bleeding times after treatment with pentobarbital, tribromoethanol, or the steroid anesthetic alphaxalone
• 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

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

homeostasis/metabolism
• lower levels of urinary lysosomal enzymes

integument
• all mice display giant and irregular melanin granules in the medulla and cortex of hairs; not observed in control mice

respiratory system
• inflammation with infiltration of lymphocytes and macrophages in aged mice
• progressive cytoplasmic foamy changes in type II pneumocytes from P0 to 24 months of age, increasing in terms of both the affected cell number and degree of severity as mice age
• marked swelling and degenerative changes of type II pneumocytes (referred to as "giant lamellar body degeneration" or GLBD) in aged mice
• most lamellar bodies are increased in size at P0
• numerous giant-sized lamellar bodies are often fused with each other in aged mice, often resulting in cellular distension and degeneration
• enlarged air spaces in aged mice
• slight fibrosis in aged mice with prominent GLBD
• no evidence of interstitial change in younger mice with only GLBD
• patchy areas of alveolar collapse associated with marked GLBD, lymphocytic infiltration and slight fibrosis in aged mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Chediak-Higashi syndrome DOID:2935 OMIM:214500
J:4978 , J:5078 , J:5338 , J:5405 , J:5471 , J:5514 , J:5590 , J:6302




Genotype
MGI:3588316
hm2
Allelic
Composition
Lystbg/Lystbg
Genetic
Background
B6.C3Rl-Lystbg/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• light and electron microscopic cytochemistry of cultured fibroblasts shows large dense bodies have an origin through fusion of lysosomes
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts

immune system
• lower natural killer cell activity
• mutants fail to eliminate amastigotes of Leishmania donovani, the parasite causing leishmaniasis, from their spleens over 56 days
• however, similar levels of anti-leishmanial antibody are produced by mutants as in controls and mutants exhibit a normal response to Leishmania tropica infection

respiratory system
• alveolar maturation is impaired, resulting in abnormally large alveoli

hematopoietic system
• lower natural killer cell activity

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Chediak-Higashi syndrome DOID:2935 OMIM:214500
J:6801




Genotype
MGI:3847105
cx3
Allelic
Composition
Foxq1sa/Foxq1sa
Lystbg/Lystbg
Genetic
Background
involves: 101/Rl * C3H/Rl * C57BL10/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxq1sa mutation (16 available); any Foxq1 mutation (24 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• usually enlarged in the presence of pulmonary disease
• showed either adhesions only or consolidation with or without adhesions
• 70% of mice develop progressive pneumonitis by 6 months of age
• histologic samples of lobes with adhesions revealed underlying pneumonitis

respiratory system
• showed either adhesions only or consolidation with or without adhesions
• 70% of mice develop progressive pneumonitis by 6 months of age
• histologic samples of lobes with adhesions revealed underlying pneumonitis

growth/size/body
• weight loss, particularly in males, is coincident with pneumonitis
• usually enlarged in the presence of pulmonary disease

hematopoietic system
• usually enlarged in the presence of pulmonary disease




Genotype
MGI:3847098
cx4
Allelic
Composition
Foxq1sa/Foxq1sa
Lystbg/Lystbg
Genetic
Background
involves: 101/Rl * C3H/Rl * C57BL/6J * C57BL10/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxq1sa mutation (16 available); any Foxq1 mutation (24 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die of pneumonitis during the first year of life

immune system
• Background Sensitivity: by 6 months of age 49% of beige and 11% of nonbeige backcross offspring from an outcross to C57BL/6J-Aw-J develop progressive pneumonitis compared to 70% without C57BL/6J in the background (J:5311)
• mice die with pneumonitis during the first year of life (J:15166)
• specific action of the mutation Lystbg increases susceptibility to progressive pneumonitis

respiratory system
• Background Sensitivity: by 6 months of age 49% of beige and 11% of nonbeige backcross offspring from an outcross to C57BL/6J-Aw-J develop progressive pneumonitis compared to 70% without C57BL/6J in the background (J:5311)
• mice die with pneumonitis during the first year of life (J:15166)

neoplasm




Genotype
MGI:4454430
cx5
Allelic
Composition
a/a
Lystbg/Lystbg
Oca2p-J/Oca2p-J
Genetic
Background
involves: C3H/HeJ * C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
Oca2p-J mutation (4 available); any Oca2 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 35% of melanosomes in adult retina are fibrillar in nature, the rest are particulate
• 2% of premelanosomes in the choroid are fused to form giant granules

vision/eye
• 2% of premelanosomes in the choroid are fused to form giant granules




Genotype
MGI:4454432
cx6
Allelic
Composition
a/a
Lystbg/Lystbg
Tyrp1b/Tyrp1b
Genetic
Background
involves: C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
Tyrp1b mutation (29 available); any Tyrp1 mutation (110 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
• 80% of premelanosomes in the choroid and retina fuse to form giant granules

vision/eye
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
• 80% of premelanosomes in the choroid and retina fuse to form giant granules




Genotype
MGI:4454431
cx7
Allelic
Composition
a/a
Hps6ru/Hps6ru
Lystbg/Lystbg
Genetic
Background
involves: C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Hps6ru mutation (3 available); any Hps6 mutation (20 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 60% in the retina are fibrillar in nature, the rest are particulate
• 80% of premelanosomes in the retina are fused to form giant premelanosomes
• premelanosome formation in the choroid is delayed until after birth

vision/eye
• 80% of premelanosomes in the retina are fused to form giant premelanosomes




Genotype
MGI:4453444
cx8
Allelic
Composition
a/a
Hps6ru-5J/Hps6ru-5J
Lystbg/Lystbg
Genetic
Background
involves: C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Hps6ru-5J mutation (0 available); any Hps6 mutation (20 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• on this non-agouti black background, the coat is a dark, dull, sepia color
• pigmentation is so reduced as to result in dark ruby-colored eyes

vision/eye
• pigmentation is so reduced as to result in dark ruby-colored eyes

integument
• on this non-agouti black background, the coat is a dark, dull, sepia color




Genotype
MGI:4454426
cx9
Allelic
Composition
a/a
Lystbg/Lystbg
Genetic
Background
involves: C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• 80% of premelanosomes in the choroid and retina are fused to form giant granules
• 80% of premelanosomes in the retina and choroid are fused to form giant granules

vision/eye
• 80% of premelanosomes in the choroid and retina are fused to form giant granules
• 80% of premelanosomes in the retina and choroid are fused to form giant granules




Genotype
MGI:4454429
cx10
Allelic
Composition
a/a
Lystbg/Lystbg
Tyrc/Tyrc
Genetic
Background
involves: C3H/Rl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
Tyrc mutation (78 available); any Tyr mutation (357 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• absence of fibrillar melanosomes in the choroid and retina
• number of granules diminishes in adults after birth
• number of granules diminishes in adults after birth
• absence of melanin deposition on premelanosome filaments

vision/eye
• number of granules diminishes in adults after birth
• number of granules diminishes in adults after birth




Genotype
MGI:4453314
cx11
Allelic
Composition
A/?
Lystbg/Lystbg
Tyrp1+/?
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
A mutation (19 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, mice exhibit a lighter coat color than wild-type controls, particularly at the base of the hairs
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mutant dorsal hairs have a yellow subterminal band, a dark grey middle portion, and usually a very light grey base
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, the eye pigmentation of mice is only slight at birth but varies from ruby to almost black in adults

vision/eye
• on an agouti black (A-B-) background, the eye pigmentation of mice is only slight at birth but varies from ruby to almost black in adults

limbs/digits/tail
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls

craniofacial
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls

hearing/vestibular/ear
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls

integument
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, mice exhibit a lighter coat color than wild-type controls, particularly at the base of the hairs
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mutant dorsal hairs have a yellow subterminal band, a dark grey middle portion, and usually a very light grey base
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls

growth/size/body
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls




Genotype
MGI:2654822
cx12
Allelic
Composition
A/?
Lystbg/Lystbg
Tyrp1b/Tyrp1b
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
A mutation (19 available); any a mutation (460 available)
Lystbg mutation (6 available); any Lyst mutation (153 available)
Tyrp1b mutation (29 available); any Tyrp1 mutation (110 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• on an agouti brown (A-bb) background, beige mice exhibit an overall cafe-au-lait coat color
• Background Sensitivity: the relatively greater dilution effect noted on basal hair is not as pronounced in brown beige as in black beige mice
• Background Sensitivity: on an agouti brown (A-bb) background, newborn beige mice exhibit lighter eyes than on an agouti black (A-B-) background

vision/eye
• Background Sensitivity: on an agouti brown (A-bb) background, newborn beige mice exhibit lighter eyes than on an agouti black (A-B-) background

integument
• on an agouti brown (A-bb) background, beige mice exhibit an overall cafe-au-lait coat color
• Background Sensitivity: the relatively greater dilution effect noted on basal hair is not as pronounced in brown beige as in black beige mice




Genotype
MGI:3848455
cx13
Allelic
Composition
Lystbg/Lystbg
Prkdcscid/Prkdcscid
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg mutation (6 available); any Lyst mutation (153 available)
Prkdcscid mutation (117 available); any Prkdc mutation (288 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• although all mice of this genotype are highly suseptible, adult female mice during the perinatal period are most at risk
• infection can involve organisms not usually regarded as mouse pathogens





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory