Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Runx1tm1.1Gss
Name:	runt related transcription factor 1; targeted mutation 1.1, Gary S Stein
MGI ID:	MGI:4437264
Synonyms:	Runx1Q307X
Gene:	Runx1  Location: Chr16:92398354-92622962 bp, - strand  Genetic Position: Chr16, 53.7 cM
Alliance:	Runx1tm1.1Gss page

Germline Transmission:	Earliest citation of germline transmission: J:157660
Parent Cell Line:	PC3 (ES Cell)
Strain of Origin:	129S4/SvJae-Tg(Prm-cre)70Og

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Single point mutation   Mutation details: Exon 8 was replaced with a floxed neo cassette and a modified exon 8 that contains a C to T transition producing a termination codon instead of glutamine at position 307 (Q307X), modeling genetic lesions observed in patients with leukemia and myeloproliferative disorders. Cre-mediated excision driven by the Tg(Prm-cre)70Og transgene carried by the parental PC3 ES cells removed the neo cassette upon transmission from male chimeras. (J:157660)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	36 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

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:	35 strains or lines available

Original:	J:157660 Dowdy CR, et al., Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation. Hum Mol Genet. 2010 Mar 15;19(6):1048-57
All:	1 reference(s)