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Abca7tm1Frm
Targeted Allele Detail
Nomenclature
Symbol: Abca7tm1Frm
Name: ATP-binding cassette, sub-family A (ABC1), member 7; targeted mutation 1, Mason W Freeman
MGI ID: MGI:3574592
Synonyms: Abca7-
Gene: Abca7  Location: Chr10:79996494-80015572 bp, + strand  Genetic Position: Chr10, 39.72 cM
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 detailsExons 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)
Phenotypes
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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:  29 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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory