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Runx1tm2.1Gss
Targeted Allele Detail
Summary
Symbol: Runx1tm2.1Gss
Name: runt related transcription factor 1; targeted mutation 2.1, Gary S Stein
MGI ID: MGI:5613812
Synonyms: Runx1HTY350-352AAA
Gene: Runx1  Location: Chr16:92398354-92622962 bp, - strand  Genetic Position: Chr16, 53.7 cM
Alliance: Runx1tm2.1Gss page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:214025
Parent Cell Line:  PC3 (ES Cell)
Strain of Origin:  129S4/SvJae-Tg(Prm-cre)70Og
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 8 was replaced with a modified one in which nucleotide substitutions (CACACCTAC to GCCGCGGCA) resulted in the amino acid substitution of three alanines for histidine, threonine and tyrosine at positions 350 to 352 (HTY350-352AAA). These mutations disrupt the subnuclear targeting/co-factor interaction domain. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 8. (J:214025)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Runx1 Mutation:  34 strains or lines available
References
Original:  J:214025 Dowdy CR, et al., A germline point mutation in Runx1 uncouples its role in definitive hematopoiesis from differentiation. Exp Hematol. 2013 Nov;41(11):980-991.e1
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory