Mouse Genome Informatics
hm
    Ap3d1mh/Ap3d1mh
B6.C3-Grxcr1pi
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 50-70% die between birth and 4 weeks of age depending on genetic background

pigmentation
• both yellow (phaeomelanin) and black (eumelanin) hairs are diluted
• hairs in ear and around genitalia are white
• absence of visible eye pigment at birth
• eyes of adult mice appear deep red

behavior/neurological
• contributes to poor breeding and offspring neglect
• all do not overtly display this but all show imbalance when handled

growth/size/body
• at all ages mice are smaller than normal littermates

hearing/vestibular/ear
• in surviving homozygous ranging 27 days or more
• >by 100 days of age there is extensive loss of hair cells and distortion of supporting cells
• almost always reduced
• inconsistent occurrence of variable amounts and distribution of crystals in some mutants (J:5511)
• mice are initially hypersensitive to sound
• hearing loss progresses to complete deafness between 3-6 months of age

reproductive system
• hyperactivity contributes to poor breeding performance and offspring neglect

vision/eye
• absence of visible eye pigment at birth
• eyes of adult mice appear deep red

nervous system
• severe loss of cells in the spiral ganglion in animals over 100-days-old

homeostasis/metabolism
• greater than 15 minutes compared to normal 2 minute bleeding time
• loss of vesicular zinc

integument
• both yellow (phaeomelanin) and black (eumelanin) hairs are diluted
• hairs in ear and around genitalia are white

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 2; HPS2 608233 J:29151
Storage Pool Platelet Disease 185050 J:29151