Fancm^em1Qsh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fancm^em1Qsh
• Name: Fanconi anemia, complementation group M; endonuclease-mediated mutation 1, Qinghua Shi
• MGI ID: MGI:6508081
• Synonyms: Fancm^deltaC
• Gene: Fancm Location: Chr12:65122377-65178832 bp, + strand Genetic Position: Chr12, 27.21 cM
• Alliance: Fancm^em1Qsh page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Exon 11 was targeted with an sgRNA using CRISPR/Cas9 technology, resulting in a 19 bp deletion (GAGTGTACAGCGAAGGCCG). Western blot analysis confirmed the lack of expression of C-terminal ERCC4 nuclease domain containing peptides from this locus. (J:301639)

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 Fancm Mutation: 120 strains or lines available

References

• Original: J:301639 Yin H, et al., A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med. 2019 Jan;21(1):62-70
• All: 1 reference(s)