Hps5^ru2-3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hps5^ru2-3Btlr
• Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 3 Bruce Beutler
• MGI ID: MGI:5607739
• Synonyms: titan
• Gene: Hps5 Location: Chr7:46409890-46445488 bp, - strand Genetic Position: Chr7, 30.56 cM
• Alliance: Hps5^ru2-3Btlr 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: The molecular lesion is a T to C transition at base pair 46,783,469 (v38) on chromosome 7, or base pair 113,685 in the GenBank genomic region NC_000073. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. The gene contains 23 total exons, and multiple processed transcripts have been identified (ENSMUSG00000014418). The effect of this mutation at the cDNA and protein levels is unknown. (J:216049)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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:216049 Reyna C, et al., Mutagenetix entry for titan. Updated on December 18, 2014. MGI Direct Data Submission. 2014
• All: 1 reference(s)