vision/eye phenotype

• abnormal eye pigmentation
  • at birth the iris pigment ring is lacking and adults have ruby colored eyes
  (MGI Ref ID J:13122)
  • n normal and tend to be clumped within multimelanosomal bodies
  (MGI Ref ID J:81444)
  • 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
  (MGI Ref ID J:81444)

• abnormal choroid pigmentation
  (MGI Ref ID J:81444)

• abnormal iris pigmentation
  (MGI Ref ID J:13122)

• decreased eye pigmentation
  • eyes are unpigmented at birth but later, when opened, are a dark ruby color
  (MGI Ref ID J:13122)

integument phenotype

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

pigmentation phenotype

• abnormal eye pigmentation
  • n normal and tend to be clumped within multimelanosomal bodies
  (MGI Ref ID J:81444)
  • at birth the iris pigment ring is lacking and adults have ruby colored eyes
  (MGI Ref ID 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
  (MGI Ref ID J:81444)

• abnormal iris pigmentation
  (MGI Ref ID J:13122)

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

• hypopigmentation
  • the number of melanocytes in the retina, ear skin, Harderian gland, are greatly reduced
  (MGI Ref ID J:12970)

• abnormal choroid pigmentation
  (MGI Ref ID J:81444)

• decreased eye pigmentation
  • eyes are unpigmented at birth but later, when opened, are a dark ruby color
  (MGI Ref ID J:13122)

pigmentation phenotype

• abnormal eye pigmentation
  (MGI Ref ID J:5346)

• abnormal melanosome morphology
  • 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
  (MGI Ref ID J:5346)

• abnormal melanogenesis
  • decrease in the melanization of pigment granules
  (MGI Ref ID J:5346)
  • premelanosome formation and the subsequent deposition of melanin in the choroid is delayed until after birth
  (MGI Ref ID J:5346)

vision/eye phenotype

• abnormal eye pigmentation
  (MGI Ref ID J:5346)

cardiovascular system phenotype

• decreased susceptibility to atherosclerosis
  • 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
  (MGI Ref ID J:29748)
  • 6J controls fed the atherogenic diet
  (MGI Ref ID J:29748)
  • on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
  (MGI Ref ID J:29748)

integument phenotype

• abnormal coat/hair pigmentation
  (MGI Ref ID J:6064)

nervous system phenotype

• decreased platelet serotonin level
  • less than 7% of normal levels of platelet serotonin
  (MGI Ref ID J:7327)
  • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  (MGI Ref ID J:29748)

• abnormal retinal ganglion cell morphology
  • there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus
  (MGI Ref ID J:6064)

• abnormal lateral geniculate nucleus morphology
  • the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
  (MGI Ref ID J:6064)

pigmentation phenotype

• abnormal coat/hair pigmentation
  (MGI Ref ID J:6064)

renal/urinary system phenotype

• abnormal kidney physiology
  • concentration of lysosomal enzymes is elevated
  (MGI Ref ID J:6422)
  • decreased rate of secretion of lysosomal enzyme into urine
  (MGI Ref ID J:6422)

vision/eye phenotype

• abnormal retinal ganglion cell morphology
  • there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus
  (MGI Ref ID J:6064)

hematopoietic system phenotype

• decreased platelet ADP level
  • platelet ADP levels are much lower than in C57BL/6J controls
  (MGI Ref ID J:7327)

• decreased platelet dense granule number
  • fewer platelet dense granules than normal
  (MGI Ref ID J:7327)

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

• decreased platelet serotonin level
  • less than 7% of normal levels of platelet serotonin
  (MGI Ref ID J:7327)
  • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  (MGI Ref ID J:29748)

homeostasis/metabolism phenotype

• decreased platelet serotonin level
  • less than 7% of normal levels of platelet serotonin
  (MGI Ref ID J:7327)
  • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  (MGI Ref ID J:29748)

• increased bleeding time
  • bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
  (MGI Ref ID J:7327)