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Akt1tm1.1Mjl
Targeted Allele Detail
Summary
Symbol: Akt1tm1.1Mjl
Name: thymoma viral proto-oncogene 1; targeted mutation 1.1, Marjorie J Lindhurst
MGI ID: MGI:6460342
Synonyms: Akt1E17K, Akt1tm1.1Lind
Gene: Akt1  Location: Chr12:112620260-112641266 bp, - strand  Genetic Position: Chr12, 61.2 cM, cytoband F1-F2
Alliance: Akt1tm1.1Mjl page
Mutation
origin
Mouse Generated:  Earliest citation of chimera generation: J:293971
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6-Tg(UBC-GFP)30Scha/J)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA G to A nucleotide change at position 49 (c.49G>A) was introduced in exon 3 resulting in a glutamate to lysine substitution at amino acid 17 (p.E17K). A loxP-flanked lacZ and neomycin resistance gene fusion cassette containing a transcription termination signal was inserted upstream of exon 3. Cre-mediated recombination in the ES cells removed the lacZ/neomycin cassette resulting in the expression of the mutant protein. (J:293971)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 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 Akt1 Mutation:  34 strains or lines available
Notes
ES cell line = HG3 - (129S6/SvEvTac x C57BL/6-Tg(UBC-GFP)30Scha/J)F1
References
Original:  J:293971 Lindhurst MJ, et al., A mouse model of Proteus syndrome. Hum Mol Genet. 2019 Sep 1;28(17):2920-2936
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory