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Targeted Allele Detail
Symbol: Apobtm1Zc
Name: apolipoprotein B; targeted mutation 1, Zhouji Chen
MGI ID: MGI:2183299
Synonyms: Apob27.6
Gene: Apob  Location: Chr12:7977648-8016835 bp, + strand  Genetic Position: Chr12, 3.53 cM
Germline Transmission:  Earliest citation of germline transmission: J:76047
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
Mutation detailsDeletion of nucleotide 5449 in exon 26 and a loxP-flanked PGK-neo cassette inserted into intron 24 were introduced to the gene via homologous recombination. The single nucleotide deletion should result in a truncated protein similar to the apoB-38.9 mutation found in human familial hypobetalipoproteinemia (FHBL). Western blot analysis of homozygous mutants showed an unexpected mutant protein similar to apoB-27.6, a smaller form of mutant protein found in FHBL. Southern blot analysis of homozygous mutant animals showed the gene was correctly targeted. (J:76047)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 2 anatomical structures
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 Apob Mutation:  118 strains or lines available
Original:  J:76047 Chen Z, et al., Hypobetalipoproteinemic Mice with a Targeted Apolipoprotein (Apo) B-27.6-specifying Mutation. IN VIVO EVIDENCE FOR AN IMPORTANT ROLE OF AMINO ACIDS 1254-1744 OF ApoB IN LIPID TRANSPORT AND METABOLISM OF THE ApoB-CONTAINING LIPOPROTEIN. J Biol Chem. 2002 Apr 19;277(16):14135-45
All:  1 reference(s)

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MGI 6.12
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