Mouse Genome Informatics
cx1
    a/a
Hps6ru/Hps6ru

B6.Cg-Hps6ru
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• fewer platelet dense granules than normal
• 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
• 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)
• bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
• 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
• the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

vision/eye
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

renal/urinary system
• concentration of lysosomal enzymes is elevated
• decreased rate of secretion of lysosomal enzyme into urine


Mouse Genome Informatics
cx2
    a/a
Hps6ru/Hps6ru
Lystbg/Lystbg

involves: C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cx3
    a/a
Hps6ru/Hps6ru

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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
• 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


Mouse Genome Informatics
cx4
    a/a
Mregdsu/Mregdsu
Hps6ru/Hps6ru

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• products of this genotype normalize eye color from ruby to wild-type black
• coat color dilution is not affected

integument
• 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
• 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


Mouse Genome Informatics
cx5
    Hps6ru/Hps6ru
Lystbg-slt/Lystbg-slt

involves: YZ57/Ch
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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
• eye color was pink

vision/eye
• eye color was pink

integument
• 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


Mouse Genome Informatics
cx6
    Espnje/?
f/f
Hps6ru/Hps6ru

JE/LeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• 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
• 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


Mouse Genome Informatics
cx7
    a/a
Hps6ru/Hps6ru

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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
• 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)
• the number of melanocytes in the retina, ear skin, Harderian gland, are greatly reduced
• eyes are unpigmented at birth but later, when opened, are a dark ruby color

vision/eye
• 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)
• eyes are unpigmented at birth but later, when opened, are a dark ruby color

integument
• 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


Mouse Genome Informatics
cx8
    A/A
Hps6ru/Hps6ru

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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
• 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