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Bloc1s5mu
Spontaneous Allele Detail
Nomenclature
Symbol: Bloc1s5mu
Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted; muted
MGI ID: MGI:1856106
Synonyms: mu
Gene: Bloc1s5  Location: Chr13:38602709-38635109 bp, - strand  Genetic Position: Chr13, 18.35 cM
Bloc1s5mu/Bloc1s5mu

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

Mutation
origin
Strain of Origin:  STOCK t
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsAn early transposon (Etn) insertion has been identified as the mutation underlying the phenotype in muted mice. Analysis of genomic DNA revealed an insertion into the third intron. 183 bp of Etn sequence has been incorporated into the mRNA , likely by the activation of cryptic splice sites within the Etn. This results in an in-frame insertion into the translated protein at position 106, predicting a 246 amino acid protein. A significant reduction in mRNA levels is observed. (J:75830)
Inheritance:    Recessive
Phenotypes
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Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any Bloc1s5 Mutation:  9 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:29151)

References
Original:  J:29164 Lyon MF, et al., Muted, mu. Mouse News Lett. 1965;32:38
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory