Hps5^ru2-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hps5^ru2-Btlr
• Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 Bruce Beutler
• MGI ID: MGI:3778297
• Synonyms: Hps5^m1Btlr, toffee
• Gene: Hps5 Location: Chr7:46409890-46445488 bp, - strand Genetic Position: Chr7, 30.56 cM
• Alliance: Hps5^ru2-Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The toffee mutation corresponds to T-to-C transition in the donor splice site of intron 9 (GTAATT->GCAATT) (nucleotide position 16609 in the Genbank genomic region NC_000073) that destroys the splice site, resulting in the usage of a downstream sequence within intron 9 for splicing. Thus, 23 nucleotides from the 5' end of intron 9 are inserted into the transcript and the reading frame shifts folowing the insertion. (J:133272)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hps5 Mutation: 90 strains or lines available

References

• Original: J:133272 Eidendchenk C, et al., Toffee is an allele of Hps5, involved in lysosmal biogenesis. MGI Direct Data Submission. 2008
• All: 2 reference(s)