Bloc1s5^mu-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Bloc1s5^mu-Btlr
• Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted; muted Bruce Beutler
• MGI ID: MGI:3799687
• Synonyms: minnie, Muted^m1Btlr
• Gene: Bloc1s5 Location: Chr13:38786674-38821093 bp, - strand Genetic Position: Chr13, 18.35 cM
• Alliance: Bloc1s5^mu-Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, discovered among progeny of an ENU-mutagenized male mouse, was mapped to Chromosome 13 and has been identified as a T-to-A transversion at nucleotide position 4028 of the gene (Genbank genomic region NC_000079). The mutation is in the first intron, seven nucleotides upstream from the beginning of exon 2, and impairs the acceptor splice site of intron 1. (J:137494)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Bloc1s5^mu-Btlr/Bloc1s5^mu-Btlr	C57BL/6J-Bloc1s5^mu-Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
head tilt	√
immune system	N
immune system phenotype	N
integument	√
diluted coat color	√
pigmentation	√
diluted coat color	√

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 Bloc1s5 Mutation: 17 strains or lines available

Notes

Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. Mutants for the present allele have not been studied in this context.

References

• Original: J:137494 Arnold CN, et al., Record for "minnie", updated 14th of July, 2008. MGI Direct Data Submission. 2008
• All: 1 reference(s)