Foxn1^em1Oers
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxn1^em1Oers
• Name: forkhead box N1; endonuclease-mediated mutation 1, Nicolai van Oers
• MGI ID: MGI:7595572
• Synonyms: Foxn1⁹³³
• Gene: Foxn1 Location: Chr11:78248403-78277384 bp, - strand Genetic Position: Chr11, 46.74 cM
• Alliance: Foxn1^em1Oers page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Transposon concatemer)
• Mutation: Insertion
• Mutation details: Four nucleotides were inserted (TCCC) into exon 7 using an sgRNA and an ssODN template with CRISPR/Cas9 technology, resulting in a frameshift and premature stop codon (p.D313Sfs*11). The mutation replicates a human mutation (ACCC duplication) associated with thymic-hypoplasia-linked SCID without alopecia or nail dystrophy when compound heterozygous with another mutation in the same gene (represented by the Foxn1^em2Oers allele). (J:280961)

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 Foxn1 Mutation: 104 strains or lines available

References

• Original: J:280961 Du Q, et al., FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. J Clin Invest. 2019 Nov 1;129(11):4724-4738
• All: 1 reference(s)