Phenotypes Associated with This Genotype

Genotype
MGI:5559208

• Allelic Composition: Ap3d1^mh-4J/Ap3d1^mh-4J
• Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

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

behavior/neurological

tremors ( J:207448 )

• homozygotes display a constant quivering

head tilt ( J:207448 )

growth/size/body

decreased body size ( J:207448 )

• homozygotes are smaller than littermate controls and develop a gauntness and frailty

reproductive system

reduced female fertility ( J:207448 )

♀

male infertility ( J:207448 )

♂ • males have not reproduced and histology of one homozygous male at 15 weeks of age found no sperm in the epididymis

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:207448 )

• ABR assessment of two homozygotes at 3.5 weeks of age shows severe hearing loss

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:207448