Foxl2^em1Amp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxl2^em1Amp
• Name: forkhead box L2; endonuclease-mediated mutation 1, Alberto M Pendas
• MGI ID: MGI:7427813
• Synonyms: Foxl2^C134W
• Gene: Foxl2 Location: Chr9:98837495-98840601 bp, + strand Genetic Position: Chr9, 51.41 cM, cytoband E4
• Alliance: Foxl2^em1Amp page

Mutation origin

• Strain of Origin: C57BL/6J x CBA/J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to G change resulting in a cysteine to tryptophan substitution at amino acid 130 (p.C130W). This corresponds to the human p.C134W variant seen in individuals with adult-type granulosa cell tumors. An additional mutation that destroys the Protospacer Adjacent Motif (GCC to GCA) was also introduced. (J:332589)

Tumor Data

List all tumor models in MMHCdb carrying Foxl2^em1Amp

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 Foxl2 Mutation: 16 strains or lines available

References

• Original: J:332589 Llano E, et al., The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors. Cancer Res. 2023 Jan 18;83(2):239-250
• All: 1 reference(s)