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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hps6ru
ruby-eye
MGI:1856544
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
 		a/a
Hps6ru/Hps6ru 		B6.Cg-Hps6ru MGI:3805043
cx2
 		a/a
Hps6ru/Hps6ru
Lystbg/Lystbg 		involves: C3H/Rl * C57BL/6J MGI:4454431
cx3
 		a/a
Hps6ru/Hps6ru 		involves: C57BL/6J MGI:4454424
cx4
 		a/a
Mregdsu/Mregdsu
Hps6ru/Hps6ru 		involves: C57BL/6J MGI:5466757
cx5
 		Hps6ru/Hps6ru
Lystbg-slt/Lystbg-slt 		involves: YZ57/Ch MGI:2661072
cx6
 		Espnje/?
f/f
Hps6ru/Hps6ru 		JE/LeJ MGI:4437009
cx7
 		a/a
Hps6ru/Hps6ru 		Not Specified MGI:4361342
cx8
 		A/A
Hps6ru/Hps6ru 		Not Specified MGI:5466746


Genotype
MGI:3805043
cx1
Allelic
Composition		 a/a
Hps6ru/Hps6ru
Genetic
Background		 B6.Cg-Hps6ru
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
decreased platelet ATP level ( J:7327 )
• platelet ATP levels are much lower than in C57BL/6J controls
decreased platelet ADP level ( J:7327 )
• platelet ADP levels are much lower than in C57BL/6J controls
decreased platelet dense granule number ( J:7327 )
• fewer platelet dense granules than normal
decreased platelet serotonin level ( J:7327 , J:29748 )
• less than 7% of normal levels of platelet serotonin (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)

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 , J:29748 )
• less than 7% of normal levels of platelet serotonin (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
increased bleeding time ( J:7327 )
• bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
decreased susceptibility to atherosclerosis ( J:29748 )
• on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
• 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet

integument

pigmentation

nervous system
abnormal lateral geniculate nucleus morphology ( J:6064 )
• the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
abnormal retina ganglion cell morphology ( J:6064 )
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

vision/eye
abnormal retina ganglion cell morphology ( J:6064 )
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

renal/urinary system
abnormal kidney physiology ( J:6422 )
• concentration of lysosomal enzymes is elevated
• decreased rate of secretion of lysosomal enzyme into urine

cellular
decreased platelet ATP level ( J:7327 )
• platelet ATP levels are much lower than in C57BL/6J controls




Genotype
MGI:4454431
cx2
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 (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
Lystbg mutation (6 available); any Lyst mutation (225 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal melanosome morphology ( J:5346 )
• 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
abnormal retina melanin granule morphology ( J:5346 )
• 80% of premelanosomes in the retina are fused to form giant premelanosomes
abnormal melanogenesis ( J:5346 )
• premelanosome formation in the choroid is delayed until after birth

vision/eye
abnormal retina melanin granule morphology ( J:5346 )
• 80% of premelanosomes in the retina are fused to form giant premelanosomes




Genotype
MGI:4454424
cx3
Allelic
Composition		 a/a
Hps6ru/Hps6ru
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal melanosome morphology ( J:5346 )
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 50% in the retina are fibrillar in nature, the rest are particulate
abnormal melanogenesis ( J:5346 )
• premelanosome formation and the subsequent deposition of melanin in the choroid is delayed until after birth
• decrease in the melanization of pigment granules

vision/eye




Genotype
MGI:5466757
cx4
Allelic
Composition		 a/a
Mregdsu/Mregdsu
Hps6ru/Hps6ru
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
Mregdsu mutation (1 available); any Mreg mutation (103 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
phenotypic reversion ( J:29467 )
• products of this genotype normalize eye color from ruby to wild-type black

integument
diluted coat color ( J:29467 )
• coat color dilution is not affected by the dilute repressor mutation, Mregdsu
• the wild-type nonagouti black coat is diluted to a dull reddish brown

pigmentation
diluted coat color ( J:29467 )
• coat color dilution is not affected by the dilute repressor mutation, Mregdsu
• the wild-type nonagouti black coat is diluted to a dull reddish brown




Genotype
MGI:2661072
cx5
Allelic
Composition		 Hps6ru/Hps6ru
Lystbg-slt/Lystbg-slt
Genetic
Background		 involves: YZ57/Ch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
Lystbg-slt mutation (0 available); any Lyst mutation (225 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
diluted coat color ( J:25388 )
• coat color was off-white
• cortical pigment was absent
• medullary pigment granules were extremely reduced or absent, with more in proximal regions of the hair shaft than in distal portions
• many granules were clumped and irregular in shape
decreased eye pigmentation ( J:25388 )
• eye color was pink

vision/eye
decreased eye pigmentation ( J:25388 )
• eye color was pink

integument
diluted coat color ( J:25388 )
• coat color was off-white
• cortical pigment was absent
• medullary pigment granules were extremely reduced or absent, with more in proximal regions of the hair shaft than in distal portions
• many granules were clumped and irregular in shape




Genotype
MGI:4437009
cx6
Allelic
Composition		 Espnje/?
f/f
Hps6ru/Hps6ru
Genetic
Background		 JE/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Espnje mutation (2 available); any Espn mutation (37 available)
f mutation (4 available); any f mutation (4 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal mast cell degranulation ( J:37255 )
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased

hematopoietic system
abnormal mast cell degranulation ( J:37255 )
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased

cellular
abnormal mast cell degranulation ( J:37255 )
• although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased




Genotype
MGI:4361342
cx7
Allelic
Composition		 a/a
Hps6ru/Hps6ru
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
diluted coat color ( J:13122 )
• the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black
• yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted
abnormal eye pigmentation ( J:13122 , J:81444 )
• at birth the iris pigment ring is lacking and adults have ruby colored eyes (J:13122)
• electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies (J:81444)
hypopigmentation ( J:12970 )
• the number of melanocytes in the retina, ear skin, Harderian gland, are greatly reduced
decreased eye pigmentation ( J:13122 )
• eyes are unpigmented at birth but later, when opened, are a dark ruby color

vision/eye
abnormal eye pigmentation ( J:13122 , J:81444 )
• at birth the iris pigment ring is lacking and adults have ruby colored eyes (J:13122)
• electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies (J:81444)
decreased eye pigmentation ( J:13122 )
• eyes are unpigmented at birth but later, when opened, are a dark ruby color

integument
diluted coat color ( J:13122 )
• the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black
• yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted




Genotype
MGI:5466746
cx8
Allelic
Composition		 A/A
Hps6ru/Hps6ru
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
A mutation (19 available); any a mutation (463 available)
Hps6ru mutation (3 available); any Hps6 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
diluted coat color ( J:13122 )
• the black pigment in the coat is reduced on this background to dark slate color but the yellow pigmented agouti band at the hair tips is barely reduced in intensity so mice of this genotype are a slightly lighter agouti

pigmentation
diluted coat color ( J:13122 )
• the black pigment in the coat is reduced on this background to dark slate color but the yellow pigmented agouti band at the hair tips is barely reduced in intensity so mice of this genotype are a slightly lighter agouti




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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory