Hps5^ru2-4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hps5^ru2-4Btlr
• Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 4 Bruce Beutler
• MGI ID: MGI:6114045
• Synonyms: smoky
• Gene: Hps5 Location: Chr7:46409890-46445488 bp, - strand Genetic Position: Chr7, 30.56 cM
• Alliance: Hps5^ru2-4Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced C to T transition at base pair 46,769,351 (v38) on chromosome 7, or base pair 26,714 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,972 in the mRNA sequence NM_001005248 within exon 17 of 23 total exons. The mutation results in substitution of glutamine (Q) 832 for a premature stop codon (Q832*) in isoform 1 or Q798* in isoform 2 of the protein. (J:255198)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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:255198 Reyna C, et al., Mutagenetix entry for smoky. MGI Direct Data Submission. 2018
• All: 1 reference(s)