Foxn1^em2Oers
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxn1^em2Oers
• Name: forkhead box N1; endonuclease-mediated mutation 2, Nicolai van Oers
• MGI ID: MGI:7595575
• Synonyms: Foxn1¹⁰⁸⁹
• Gene: Foxn1 Location: Chr11:78248403-78277384 bp, - strand Genetic Position: Chr11, 46.74 cM
• Alliance: Foxn1^em2Oers page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: Fifteen nucleotides (GAAGAGGAAAGACCC) were deleted from exon 7 using an sgRNA and an ssODN template with CRISPR/Cas9 technology, resulting in a disruptive in-frame deletion and codon change (p.W363_P368delinsC). The mutation replicates a human mutation (GAAGAGGAAAGATCC deletion) 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^em1Oers allele). (J:280961)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 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: 2 reference(s)