Foxf1^em1Vvk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxf1^em1Vvk
• Name: forkhead box F1; endonuclease-mediated mutation 1, Vladimir V Kalinichenko
• MGI ID: MGI:6469362
• Synonyms: Foxf1^S52F
• Gene: Foxf1 Location: Chr8:121811125-121814883 bp, + strand Genetic Position: Chr8, 70.31 cM, cytoband E1
• Alliance: Foxf1^em1Vvk page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a serine to phenylalanine substitution at amino acid 52 (S52F). This is a mutation linked to alveolar capillary dysplasia with misalignment of pulmonary veins in humans. (J:296328)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 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 Foxf1 Mutation: 13 strains or lines available

References

• Original: J:296328 Pradhan A, et al., The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019 Oct 15;200(8):1045-1056
• All: 2 reference(s)