Abcc6^tm1Aabb
Targeted Allele Detail

Summary

• Symbol: Abcc6^tm1Aabb
• Name: ATP-binding cassette, sub-family C member 6; targeted mutation 1, Arthur AB Bergen
• MGI ID: MGI:3614409
• Synonyms: Abcc6^-
• Gene: Abcc6 Location: Chr7:45625804-45679915 bp, - strand Genetic Position: Chr7, 29.64 cM, cytoband B3
• Alliance: Abcc6^tm1Aabb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105062
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 16-18, encoding amino acids 647-782 of the transcript and the largest part of the first nucleotide-binding fold (NBF1) including Walker A and B and the signature C motifs, were replaced with a PGK-hygro cassette. RT-PCR failed to detect transcript using primers located within the deleted area. An aberrant transcript that lacked the NBF1 region was detected, however, sequencing revealed that any putative reading frame would be interrupted by several stop codons through the introduction of the hygro cassette. Protein was not detected in mutant liver or kidney samples. (J:105062)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Abcc6 Mutation: 76 strains or lines available

References

• Original: J:105062 Gorgels TG, et al., Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005 Jul 1;14(13):1763-73
• All: 24 reference(s)