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Article

Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Mar 2003

Kantheti Prameela, Diaz Maria E, Peden Andrew E, Seong Eunju E, Dolan David F, Robinson Margaret S, Noebels Jeffrey L, Burmeister Margit L

Abstract excerpt

Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and deafness as well as neurological abnormalities. The trans-Golgi/endosome adaptor-related complex AP-3 is missing in mh mice owing to a deletion in the gene encoding the delta subunit. Mice mutant for a second allele, mh(2J), are as hyperactive as mh, and display both spike...

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PMID: 12647238
DOI: 10.1007/s00335-002-2238-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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