Tfap2b^em1Fenli
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tfap2b^em1Fenli
• Name: transcription factor AP-2 beta; endonuclease-mediated mutation 1, Fen Li
• MGI ID: MGI:6364882
• Synonyms: Tfap2b^Mu
• Gene: Tfap2b Location: Chr1:19279138-19308800 bp, + strand Genetic Position: Chr1, 6.19 cM, cytoband A2-A4
• Alliance: Tfap2b^em1Fenli page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: A 4-base deletion (c.435_438delCCGG or c.439_442delCCGG) was created in exon 2 with two sgRNAs and a donor oligonucleotide using CRISPR/Cas9 technology. This deletion mimics one found in a family with patent ductus arteriosus (PDA). (J:278067)

Disease models

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 Tfap2b Mutation: 29 strains or lines available

References

• Original: J:278067 Wang J, et al., Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. J Surg Res. 2018 Jul;227:178-185
• All: 1 reference(s)