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Bloc1s6pa
Spontaneous Allele Detail
Summary
Symbol: Bloc1s6pa
Name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin; pallid
MGI ID: MGI:1856982
Synonyms: pa, Pldnpa, Pldnpa
Gene: Bloc1s6  Location: Chr2:122580423-122591395 bp, + strand  Genetic Position: Chr2, 60.66 cM
Alliance: Bloc1s6pa page
Bloc1s6pa/Bloc1s6pa

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

Mutation
origin
Strain of Origin:  wild
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe C to T substitution at coding nucleotide 205 introduces a premature stop codon at arginine codon 69 (p.R69*) in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. (J:2185, J:64907)
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: 11 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Bloc1s6 Mutation:  24 strains or lines available
References
Original:  J:13138 Roberts E, A new mutation in the house mouse (Mus musculus). Science. 1931;74:569
All:  88 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
04/16/2024
MGI 6.23
The Jackson Laboratory