Bloc1s5<mu> Spontaneous Allele Detail MGI Mouse (MGI:1856106)

Bloc1s5^mu
Spontaneous Allele Detail

Summary

Symbol:	Bloc1s5^mu
Name:	biogenesis of lysosomal organelles complex-1, subunit 5, muted; muted
MGI ID:	MGI:1856106
Synonyms:	mu
Gene:	Bloc1s5 Location: Chr13:38786674-38821093 bp, - strand Genetic Position: Chr13, 18.35 cM
Alliance:	Bloc1s5^mu page

Bloc1s5^mu/Bloc1s5^mu

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

Mutation
origin

Strain of Origin:

STOCK t

Mutation
description

Allele Type:		Spontaneous (Hypomorph)
Mutation:		Transposon insertion
		Mutation details: An 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Bloc1s5 Mutation:	17 strains or lines available

References

Original:	J:29164 Lyon MF, et al., Muted, mu. Mouse News Lett. 1965;32:38
All:	22 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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