Abca7^tm1Frm
Targeted Allele Detail

Summary

• Symbol: Abca7^tm1Frm
• Name: ATP-binding cassette, sub-family A member 7; targeted mutation 1, Mason W Freeman
• MGI ID: MGI:3574592
• Synonyms: Abca7^-
• Gene: Abca7 Location: Chr10:79832328-79851406 bp, + strand Genetic Position: Chr10, 39.72 cM
• Alliance: Abca7^tm1Frm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:96865
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Exons 20 and 21 were deleted by homologous recombination. This sequence encodes the signature and Walker B motifs of the first ATP-binding domain, both critical for protein function. The splicing was predicted to cause a frame shift, creating a stop codon encoded by nucleotides 9-11 of exon 22. Western blot of mutant tissue lysates from brain, heart, lung and others confirmed deletion of the exons. (J:96865)

Expression

In Structures Affected by this Mutation:

2 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 Abca7 Mutation: 89 strains or lines available

References

• Original: J:96865 Kim WS, et al., Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels. J Biol Chem. 2005 Feb 4;280(5):3989-95
• All: 11 reference(s)