The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Hps3coa/Hps3coa
homeostasis/metabolism phenotype
- decreased platelet serotonin level
- 8-fold reduction in platelet serotonin
(MGI Ref ID J:9300)
- decreased platelet aggregation
- increased bleeding time
- more than 15 minutes as opposed to 1 or 2 minutes
(MGI Ref ID J:9300)
- abnormal platelet dense granule physiology
- amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect
(MGI Ref ID J:9300)
integument phenotype
- diluted coat color
- ear pinna lack pigment at 3-4 days of age
(MGI Ref ID J:9300)- paler coat color in both juveniles and adults
(MGI Ref ID J:9300)- extremities light in color
(MGI Ref ID J:9300)
nervous system phenotype
- decreased platelet serotonin level
- 8-fold reduction in platelet serotonin
(MGI Ref ID J:9300)
pigmentation phenotype
- abnormal melanosome morphology
- striated melanosomes predominantly round
(MGI Ref ID J:80751)- shift toward more immature forms of melanosomes
(MGI Ref ID J:80751)- spherical multivesicular bodies also present
(MGI Ref ID J:80751)- few ellipsoid melanosomes
(MGI Ref ID J:80751)
- diluted coat color
- extremities light in color
(MGI Ref ID J:9300)- paler coat color in both juveniles and adults
(MGI Ref ID J:9300)- ear pinna lack pigment at 3-4 days of age
(MGI Ref ID J:9300)
- abnormal retinal pigmentation
- electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
(MGI Ref ID J:72606)
- absent eye pigmentation
- lack eye pigment
(MGI Ref ID J:9300)
- abnormal choroid pigmentation
- electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
(MGI Ref ID J:72606)
vision/eye phenotype
- abnormal choroid pigmentation
- electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
(MGI Ref ID J:72606)
- abnormal retinal pigmentation
- electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
(MGI Ref ID J:72606)
- absent eye pigmentation
- lack eye pigment
(MGI Ref ID J:9300)
hematopoietic system phenotype
- decreased platelet dense granule number
- fewer dense bodies in platelets, with ~30% of platelets having no detectable dense granules, as examined by electron microscopy
(MGI Ref ID J:9300)- normal numbers of dense granules are present, as determined by the mepacrine method; however, the intragranular environment of dense granules is abnormal as only 2% of granules flash after exposure to ultraviolet light
(MGI Ref ID J:9300)
- decreased platelet ATP level
- decreased ATP release, as tested using collagen as an agonist
(MGI Ref ID J:9300)- Normal - lysosomal enzymes normal
(MGI Ref ID J:9300)
- decreased platelet aggregation
- decreased platelet serotonin level
- 8-fold reduction in platelet serotonin
(MGI Ref ID J:9300)
- abnormal platelet dense granule physiology
- amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect
(MGI Ref ID J:9300)
The following phenotype relates to a compound genotype created using this strain
Genotype: Hps3coa/Hps3coa
pigmentation phenotype
- abnormal iris pigmentation
- iris pigmentation is near uniform hypopigmentation
(MGI Ref ID J:141035)
vision/eye phenotype
- abnormal iris pigmentation
- iris pigmentation is near uniform hypopigmentation
(MGI Ref ID J:141035)
