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Nkx2-1tm1Jaw
Targeted Allele Detail
Summary
Symbol: Nkx2-1tm1Jaw
Name: NK2 homeobox 1; targeted mutation 1, Jeffrey A Whitsett
MGI ID: MGI:2677488
Synonyms: Titf1PM
Gene: Nkx2-1  Location: Chr12:56578741-56583570 bp, - strand  Genetic Position: Chr12, 24.42 cM, cytoband C1-C3
Alliance: Nkx2-1tm1Jaw page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:85424
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsSequence encoding S80, a phosphorylation mutant allele of the orthologous rat gene in which 7 serine codons are replaced with alanine codons, was inserted in place of a fragment extending from the start codon (bp 7957) to the end of the homeobox (bp 9480). A polyadenylation signal and neo cassette were included immediately downstream of S80. Southern blot analysis confirmed the integration of the mutation that putatively produces a protein lacking residues required for phosphorylation. (J:85424)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 41 assay results
In Structures Affected by this Mutation: 6 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 Nkx2-1 Mutation:  24 strains or lines available
Notes
ES cell line = MPI1 (MPI-I).
References
Original:  J:85424 DeFelice M, et al., TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. J Biol Chem. 2003 Sep 12;278(37):35574-83
All:  3 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
12/10/2024
MGI 6.24
The Jackson Laboratory