Hps3^coa
Spontaneous Allele Detail

Summary

• Symbol: Hps3^coa
• Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa
• MGI ID: MGI:1856707
• Synonyms: co, coa
• Gene: Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
• Alliance: Hps3^coa page

Hps6^ru-2J/ Hps6^ru-2J and Hps3^coa/ Hps3^coa

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/10J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A-to-T substitution in the intron 14-exon 15 splice acceptor site, changing it from TAG to TTG. With the endogenous acceptor eleminated, a cryptic splice site is utilized within exon 15, which results in a frameshift and premature termination. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals. (J:72606)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Hps3 Mutation: 54 strains or lines available

References

• Original: J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
• All: 15 reference(s)