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Phenotypes Associated with This Genotype
Genotype
MGI:5559208
Allelic
Composition
Ap3d1mh-4J/Ap3d1mh-4J
Genetic
Background
involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ap3d1mh-4J mutation (1 available); any Ap3d1 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygotes display a constant quivering

growth/size/body
• homozygotes are smaller than littermate controls and develop a gauntness and frailty

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

hearing/vestibular/ear
• 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


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
03/12/2024
MGI 6.23
The Jackson Laboratory