Mouse Genome Informatics
hm
    Rab27aash/Rab27aash
C3H/HeDiSn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
pigmentation
• melanocytes have fine dendrites and granules are concentrated around the nucleus;
• melanocytes of normal siblings are long and granules widely distributed
• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants
• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background
• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

hematopoietic system
• 1.3 dense granules per platelet versus 8.4 in C3H controls
• less than 10% of normal
• reduced to approximately one tenth normal
• reduced to approximately one tenth normal (J:111253)

homeostasis/metabolism
• less than 10% of normal
• bleed time is greater than 15 minutes, versus the 1.7 minutes of C3H controls

vision/eye
N
• normal retinas (J:63231)

immune system
N
• numbers of thymocytes and splenocytes are normal, splenic T cells have a normal CD4/CD8 distribution, splenic T cells proliferate normally in response to CD3/antigen stimulation, the Fas-Fas ligand pathway is intact, cytotoxic T cells can polarize their secretory granules, CTLA4 induction and interferon gamma secretion are normal, and there is normal biogenesis of effector granules in CTLs such that there is a normal level of granzyme A, B, and perforin per CTL (J:111253)
• reduced to approximately one tenth normal
• reduced to approximately one tenth normal (J:111253)

cellular
• black, end-stage melanosomes accumulate in the cell center of melanocytes due to an inability to capture them in the dendrites, and there is rapid, bidirectional, microtubule-dependent movement of the melanosomes between the cell center and periphery

integument
N
• melanocyte dendritic arbors are normal (J:63231)
• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants
• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background
• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

endocrine/exocrine glands
• melanocytes have fine dendrites and granules are concentrated around the nucleus;
• melanocytes of normal siblings are long and granules widely distributed

Mouse Models of Human Disease
OMIM IDRef(s)
Storage Pool Platelet Disease 185050 J:63231