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

Symbol:	Bptftm1.2Cwu
Name:	bromodomain PHD finger transcription factor; targeted mutation 1.2, Carl Wu
MGI ID:	MGI:3841298
Synonyms:	BptfdeltaExon2
Gene:	Bptf  Location: Chr11:106923907-107022953 bp, - strand  Genetic Position: Chr11, 70.11 cM
Alliance:	Bptftm1.2Cwu page

Germline Transmission:	Earliest citation of germline transmission: J:147414
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: A loxP site was inserted upstream of exon 2, and a frt-flnaked neomycin cassette and a downstream loxP site was inserted downstream of exon 2. Transient cre recombinase expression removed exon 2 and the neomycin cassette. Despite the deletion, mRNA from the locus was still detected in heterozygous tissues including the brain and testis. Sequencing of exons 1-8 revealed the mRNA was out of frame indicating that this is a loss-of-function allele. This was confirmed through allelic complementation assays and by a lack of protein detectable in immunoblot assays. (J:147414)

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

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 Bptf Mutation:	157 strains or lines available

Original:	J:147414 Landry J, et al., Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells. PLoS Genet. 2008 Oct;4(10):e1000241
All:	1 reference(s)