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Hps6ru-6J
Spontaneous Allele Detail
Nomenclature
Symbol: Hps6ru-6J
Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye 6 Jackson
MGI ID: MGI:1856410
Synonyms: ru6J
Gene: Hps6  Location: Chr19:46003508-46006173 bp, + strand  Genetic Position: Chr19, 38.75 cM
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsAn intracisternal A particle (IAP) approximately 5.3 kb in length was identified at codon 108. Northern blot analysis indicated highly reduced expression in kidney tissue. (J:81444)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hps6 Mutation:  7 strains or lines available
Notes
ru6J, ruby-eye 6J, recessive. Arising in the C3H/HeJ strain, this mutation was proven to be an Hps6 remutation by complementation test. DNA and embryos will be preserved (J:29157).
References
Original:  J:29157 Cook S, Spontaneous remutation (ru<6J>). Mouse Genome. 1995;93(3):862
All:  4 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
04/06/2021
MGI 6.16
The Jackson Laboratory