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Phenotypes Associated with This Genotype
Genotype
MGI:3584030
Allelic
Composition
Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic
Background
involves: B10.A(R201) * C57BL/10Slc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ap3b1pe-rim2 mutation (1 available); any Ap3b1 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal eye pigmentation of the Ap3b1pe-rim2/Ap3b1pe-rim2 mouse.

hematopoietic system
• storage pools of the adenine nucleotide ADP is significantly decreased
• storage pools of the adenine nucleotides ATP is significantly reduced
• collagen-induced aggregation of platelets is lower in mutants than in controls
• platelets showed absence of released ATP from the platelets
• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control

pigmentation
• reduction of pigment in the fur, ears and tail
• at birth, an absence of eye pigmentation is noted
• with age, the eye pigment increases to wild-type levels
• less pigment is detected in the retinal pigment epithelium and choroidea than controls

vision/eye
• at birth, an absence of eye pigmentation is noted
• with age, the eye pigment increases to wild-type levels
• less pigment is detected in the retinal pigment epithelium and choroidea than controls
• frequently observed
• frequently observed

homeostasis/metabolism
• collagen-induced aggregation of platelets is lower in mutants than in controls
• platelets showed absence of released ATP from the platelets
• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control


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
11/29/2016
MGI 6.06
The Jackson Laboratory