Bcs1l^tm1.1Levp
Targeted Allele Detail

Summary

• Symbol: Bcs1l^tm1.1Levp
• Name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone; targeted mutation 1.1, Per Leveen
• MGI ID: MGI:5446796
• Synonyms: Bcs1l^G
• Gene: Bcs1l Location: Chr1:74627448-74631602 bp, + strand Genetic Position: Chr1, 38.54 cM, cytoband C3
• Alliance: Bcs1l^tm1.1Levp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:189652
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 2 was replaced with a modified exon 2, which contains a nucleotide substitution of A to G causing an S78G amino acid change, mimicking the mutation causing the autosomal recessive GRACILE syndrome in human. Cre-mediated recombination removed the floxed neo cassette inserted upstream of the modified exon 2. (J:189652)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 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 Bcs1l Mutation: 10 strains or lines available

References

• Original: J:189652 Leveen P, et al., The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Hepatology. 2011 Feb;53(2):437-47
• All: 9 reference(s)