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Phenotypes Associated with This Genotype
Genotype
MGI:5505784
Allelic
Composition
a/a
Rab27aash/Rab27aash
Genetic
Background
involves: C3H/HeSnJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Rab27aash mutation (3 available); any Rab27a mutation (146 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• Background Sensitivity: platelet-dense granules and platelet coagulation are normal or near normal unlike on the C3H/HeSnJ background
• Background Sensitivity: concentrations of adenine nucleotides, ADP and ATP, of platelets are only nominally lower than controls and are not significantly different from controls compared to on the C3H/HeSnJ background where levels are depressed
• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background

homeostasis/metabolism
• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background
• Background Sensitivity: modest increase in bleeding time to 6.9 minutes from the normal 2.7 minutes, but shorter than on the C3H/HeSnJ background

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Griscelli syndrome type 2 DOID:0060833 OMIM:607624
J:77395


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory