Hps3^coa-3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hps3^coa-3Btlr
• Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 3 Bruce Beutler
• MGI ID: MGI:5515383
• Synonyms: gandalf
• Gene: Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
• Alliance: Hps3^coa-3Btlr page

Gray coat of the homozygous Hps3^coa-3Btlr mouse

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

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion at base pair 20012796 (v38) on Chromosome 3 in the GenBank genomic region NC_000069. The mutation corresponds to residue 2046 in the mRNA sequence NM_080634 within exon 11 of 17 total exons. The mutation results in a cysteine (C) to premature stop codon substitution at residue 667. (J:201727)
• Inheritance: Recessive

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 Hps3 Mutation: 54 strains or lines available

References

• Original: J:201727 Purrington T, et al., Direct data submission for gandalf. MGI Direct Data Submission. 2013
• All: 1 reference(s)