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Hps3coa-2Btlr
Chemically induced Allele Detail
Summary
Symbol: Hps3coa-2Btlr
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 2 Bruce Beutler
MGI ID: MGI:5515379
Synonyms: blue
Gene: Hps3  Location: Chr3:20050109-20089478 bp, - strand  Genetic Position: Chr3, 6.12 cM
Alliance: Hps3coa-2Btlr page
Gray coat color of the homozygous Hps3coa-2Btlr 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 detailsENU mutagenesis induced a T to G transversion at base pair 20030796 (v38) on chromosome 3 in the GenBank genomic region NC_000069. The mutation corresponds to residue 272 in the mRNA sequence NM_080634 within exon 2 of 17 total exons. The mutation results in a leucine (L) to arginine (R) substitution at residue 76. (J:201725)
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 Hps3 Mutation:  54 strains or lines available
References
Original:  J:201725 Purrington T, et al., Direct data submission for blue. MGI Direct Data Submission. 2013;
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