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Phenotypes Associated with This Genotype
Genotype
MGI:2673003
Allelic
Composition
Dtnbp1sdy/Dtnbp1sdy
Genetic
Background
involves: DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnbp1sdy mutation (1 available); any Dtnbp1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the choroids
• mice had fewer melanosomes in the retinal pigment epithelium

behavior/neurological
N
• preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities

hematopoietic system
• thrombin-stimulated platelets is depressed 2- and 3-fold
• platelet dense granules are reduced in number
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• platelets have an abnormal uptake and flashing of mepacrine dye
• platelets have a reduced rate of collagen-induced aggregation

muscle
N
• mice have no obvious muscle abnormalities

renal/urinary system
• secretion of lysosomal enzymes from kidney is depressed 2- and 3-fold
• ceroid pigment is present in the kidney

vision/eye
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the retinal pigment epithelium
• choroids melanosomes were generally smaller and irregular
• mice had fewer melanosomes in the choroids

homeostasis/metabolism
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time
• platelets have an abnormal uptake and flashing of mepacrine dye
• platelets have a reduced rate of collagen-induced aggregation

integument


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory