Bptf^tm1.1Cwu
Targeted Allele Detail

Summary

• Symbol: Bptf^tm1.1Cwu
• Name: bromodomain PHD finger transcription factor; targeted mutation 1.1, Carl Wu
• MGI ID: MGI:3841297
• Synonyms: Bptf^floxed, Bptf^tm1Cwu
• Gene: Bptf Location: Chr11:106923907-107022953 bp, - strand Genetic Position: Chr11, 70.11 cM
• Alliance: Bptf^tm1.1Cwu page

Mutation origin

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

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of exon 2, and a frt-flanked neomycin cassette and a downstream loxP was inserted downstream of exon 2. Flpe expression removed the neomycin cassette leaving exon 2 floxed. (J:147414)

Disease models

Expression

In Mice Carrying this Mutation:	51 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Bptf Mutation: 157 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL (OMIM:617755) in conditional knockout mice homozygous for Bptf^tm1.1Cwu and heterozygous for Emx1^tm1(cre)Krj (J:334252).

References

• 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: 9 reference(s)