Cbfb<tm1Spe> Targeted Allele Detail MGI Mouse (MGI:1934195)

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Cbfb^tm1Spe
Targeted Allele Detail

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

Summary

Symbol:	Cbfb^tm1Spe
Name:	core binding factor beta; targeted mutation 1, Nancy A Speck
MGI ID:	MGI:1934195
Synonyms:	Cbfb^-
Gene:	Cbfb Location: Chr8:105897306-105944621 bp, + strand Genetic Position: Chr8, 53.04 cM
Alliance:	Cbfb^tm1Spe page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:36593
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A neomycin resistance gene replaced the 5' end of exon 5. This mutation is predicted to result in a protein that lacks four amino acids of the heterodimerization domain. RT-PCR analysis on RNA derived from embryos demonstrated that transcripts lacking exon 5 were produced from this allele. Western blot analysis on extracts from ES cells and homozygous embryos confirmed that an aberrant protein was made that appeared to lack sequences encoded by exon 5. (J:36593)

Phenotypes

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

Expression

In Mice Carrying this Mutation:	8 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	23 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 Cbfb Mutation:	36 strains or lines available

References

Original:	J:36593 Wang Q, et al., The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell. 1996 Nov 15;87(4):697-708
All:	8 reference(s)

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