Abca12^K416Bei
Chemically induced Allele Detail

Summary

• Symbol: Abca12^K416Bei
• Name: ATP-binding cassette, sub-family A member 12; K416, David R Beier
• MGI ID: MGI:5905730
• Gene: Abca12 Location: Chr1:71282249-71454069 bp, - strand Genetic Position: Chr1, 35.81 cM
• Alliance: Abca12^K416Bei page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU treatment caused an T>C splice donor site mutation at the exon 47/intron 47 boundary, changing it from C-GT to C-GC. This results in a mis-spliced transcript with 4 intronic nucleotides added to the 3' of exon 47, caused by the use of a cryptic A-GT splice site, which in turn leads to a frameshift and a premature stop codon. This truncates the putatively translated peptide upstream of the highly conserved ABC domain. (J:239943)

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 Abca12 Mutation: 133 strains or lines available

References

• Original: J:239943 Gallego-Llamas J, et al., Variant mapping and mutation discovery in inbred mice using next-generation sequencing. BMC Genomics. 2015 Nov 09;16:913
• All: 1 reference(s)