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Foxf1em1Vvk
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Foxf1em1Vvk
Name: forkhead box F1; endonuclease-mediated mutation 1, Vladimir V Kalinichenko
MGI ID: MGI:6469362
Synonyms: Foxf1S52F
Gene: Foxf1  Location: Chr8:121811125-121814883 bp, + strand  Genetic Position: Chr8, 70.31 cM, cytoband E1
Mutation
origin
Strain of Origin:  (C57BL/6 x DBA/2)F2
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  6 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory