B6.C3-Bloc1s4^cno/LlpJ

Stock number: 007623
Product name: cappuccino
Research areas: Cell Biology Research, Dermatology Research, Hematological Research

Description

Homozygous mutants exhibit severe dilution in coat color, diminished eye pigmentation, and increased bleed times due to defective platelet aggregation.

Detailed description

Mice homozygous for the cappuccino mutation have a severe dilution in coat color and diminished eye pigmentation. The BLOC-1 complex is disrupted and melanosome development appears arrested at an early stage. These homozygotes have significantly increased bleed times due to defective platelet aggregation. This mutation provides a model for Hermansky-Pudlak Syndrome.

Development

The cappuccino mutation arose spontaneously in the C3H/HeJ inbred strain at The Jackson Laboratory. This mutation was backcrossed onto the C57BL/6J background for at least 10 backcross generations in the laboratory of Luanne Peters and sperm from homozygous males was cryopreserved in 2010.

Allele

Symbol: Bloc1s4^cno
Name: cappuccino
MGI accession ID: MGI:2449643
Generation method: Spontaneous
Marker symbol: Bloc1s4
Marker name: biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Chromosome: 5
Strain of origin: C3H/HeJ
Molecular note: This allele comprises an 11 bp deletion that causes a frame shift that alters the C-terminal one third of the protein sequence. Expression and subcellular localization of the protein are not affected by this mutation. The mutation does affect the ability of the protein to form a complex with other lysosomal related proteins.