Bloc1s4^cno
Spontaneous Allele Detail

Summary

• Symbol: Bloc1s4^cno
• Name: biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino; cappuccino
• MGI ID: MGI:2449643
• Gene: Bloc1s4 Location: Chr5:36904722-36905994 bp, - strand Genetic Position: Chr5, 19.24 cM
• Alliance: Bloc1s4^cno page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:83960)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Bloc1s4 Mutation: 7 strains or lines available

References

• Original: J:61187 Gwynn B, et al., Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. Blood. 2000 Dec 15;96(13):4227-35
• All: 4 reference(s)