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Ttrtm2(TTR)Kymm
Targeted Allele Detail
Summary
Symbol: Ttrtm2(TTR)Kymm
Name: transthyretin; targeted mutation 2, Ken-ichi Yamamura
MGI ID: MGI:3838182
Synonyms: I(-)P(+), TtrhTTRVal30, TTRVAL30
Gene: Ttr  Location: Chr18:20798337-20807378 bp, + strand  Genetic Position: Chr18, 11.47 cM
Alliance: Ttrtm2(TTR)Kymm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:146510
Parent Cell Line:  TT2 (ES Cell)
Strain of Origin:  (C57BL/6NCrlj x CBA/JNCrlj)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, RMCE-ready)
Mutations:    Insertion, Intragenic deletion
 
Ttrtm2(TTR)Kymm expresses 1 gene
 
Mutation detailsES cells containing the Ttrtm1Kymm null allele that serves as acceptor in recombination mediated cassette exchange were electroporated with a replacement vector and a cre recombinase expression vector. The replacement vector consisted of a wild-type human TTR cDNA and a FRT-flanked puromycin resistance gene flanked by a lox66 and a loxP site. Northern blot analysis indicated gene expression in the brain, liver and eye of homozygote mice was similar to endogenous expression in wild-type mice. Human but not mouse TTR protein was detected in the liver and serum of homozygote mice in immunoblot assays. (J:146510)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Ttr Mutation:  46 strains or lines available
References
Original:  J:146510 Zhao G, et al., Inconsistency between hepatic expression and serum concentration of transthyretin in mice humanized at the transthyretin locus. Genes Cells. 2008 Nov 13;13(12):1257-1268
All:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory