Phenotypes Associated with This Genotype

Genotype
MGI:3528946

• Allelic Composition: Ap3d1^mh/Ap3d1^mh
• Genetic Background: B6.C3-Grxcr1^pi

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:5511 )

• 50-70% die between birth and 4 weeks of age depending on genetic background

pigmentation

diluted coat color ( J:5511 )

• both yellow (phaeomelanin) and black (eumelanin) hairs are diluted

• hairs in ear and around genitalia are white

decreased eye pigmentation ( J:5511 )

• absence of visible eye pigment at birth

• eyes of adult mice appear deep red

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:5511 )

head tilt ( J:5511 )

• all do not overtly display this but all show imbalance when handled

hyperactivity ( J:5511 )

• contributes to poor breeding and offspring neglect

growth/size/body

postnatal growth retardation ( J:5511 )

• at all ages mice are smaller than normal littermates

hearing/vestibular/ear

abnormal inner ear morphology ( J:5511 )

• in surviving homozygous ranging 27 days or more

organ of Corti degeneration ( J:5511 )

• >by 100 days of age there is extensive loss of hair cells and distortion of supporting cells

abnormal stria vascularis morphology ( J:5511 )

• almost always reduced

abnormal inner ear vestibule morphology ( J:5511 )

abnormal otolith morphology ( J:5511 , J:89392 )

• inconsistent occurrence of variable amounts and distribution of crystals in some mutants (J:5511)

abnormal hearing physiology ( J:5511 )

• mice are initially hypersensitive to sound

• hearing loss progresses to complete deafness between 3-6 months of age

absent linear vestibular evoked potential ( J:89392 )

reproductive system

abnormal fertility/fecundity ( J:5511 )

• hyperactivity contributes to poor breeding performance and offspring neglect

vision/eye

decreased eye pigmentation ( J:5511 )

• absence of visible eye pigment at birth

• eyes of adult mice appear deep red

nervous system

decreased brain zinc level ( J:50662 )

• loss of vesicular zinc in the CNS, most notable in the neocortical and hippocampal regions

cochlear ganglion degeneration ( J:5511 )

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

homeostasis/metabolism

increased bleeding time ( J:88018 )

• greater than 15 minutes compared to normal 2 minute bleeding time

decreased brain zinc level ( J:50662 )

• loss of vesicular zinc in the CNS, most notable in the neocortical and hippocampal regions

integument

diluted coat color ( J:5511 )

• both yellow (phaeomelanin) and black (eumelanin) hairs are diluted

• hairs in ear and around genitalia are white

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 2		DOID:0060540	OMIM:608233	J:29151
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:29151