Bloc1s1^tm1.1Wli
Targeted Allele Detail

Summary

• Symbol: Bloc1s1^tm1.1Wli
• Name: biogenesis of lysosomal organelles complex-1, subunit 1; targeted mutation 1.1, Wei Li
• MGI ID: MGI:5824712
• Synonyms: Bloc1s1^-, BLOS1-KO
• Gene: Bloc1s1 Location: Chr10:128755783-128759393 bp, - strand Genetic Position: Chr10, 77.19 cM
• Alliance: Bloc1s1^tm1.1Wli page

Missing eye pigment in E14.5 Bloc1s1^tm1.1Wli/Bloc1s1^tm1.1Wli embryos

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:238911
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Null/knockout) Mutation: Intragenic deletion Mutation details: Exon 2 was deleted by cre-mediated recombination of loxP sites that were inserted into introns 1 and 2. Immunoblotting confirmed the absence of protein in homozygous mutant brain tissues. (J:238911)

Generation of the Bloc1s1^tm1Wli and Bloc1s1^tm1.1Wli alleles

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

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 Bloc1s1 Mutation: 7 strains or lines available

References

• Original: J:238911 Zhang A, et al., Biogenesis of lysosome-related organelles complex-1 subunit 1 (BLOS1) interacts with sorting nexin 2 and the endosomal sorting complex required for transport-I (ESCRT-I) component TSG101 to mediate the sorting of epidermal growth factor receptor into endosomal compartments. J Biol Chem. 2014 Oct 17;289(42):29180-94
• All: 2 reference(s)