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Hps5ru2-2Btlr
Chemically induced Allele Detail
Summary
Symbol: Hps5ru2-2Btlr
Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2, 2 Bruce Beutler
MGI ID: MGI:3794862
Synonyms: dorian gray
Gene: Hps5  Location: Chr7:46409890-46445488 bp, - strand  Genetic Position: Chr7, 30.56 cM
Alliance: Hps5ru2-2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation, discovered among G3 progeny of an ENU-mutagenized mouse by their hypopigmented, light brown fur, corresponds to an A-to-T transversion at nucleotide position 2337 of the gene, in the 16th of 23 exons, replacing an arginine codon by a termination codon at position 680 (R680Ter). (J:135220)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:135220 Blasius AL, et al., Record for "dorian gray", updated 3rd of June, 2008. MGI Direct Data Submission. 2008;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory