Nkx2-1^em1Xsun
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nkx2-1^em1Xsun
• Name: NK2 homeobox 1; endonuclease-mediated mutation 1, Xin Sun
• MGI ID: MGI:7261456
• Synonyms: Nkx2-1^L, Nkx2-1^R161L
• Gene: Nkx2-1 Location: Chr12:56578741-56583570 bp, - strand Genetic Position: Chr12, 24.42 cM, cytoband C1-C3
• Alliance: Nkx2-1^em1Xsun page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change resulting in an arginine to leucine substitution at amino acid 161 (p.R161L) in exon 3. This is the first patient mutation found in a family with neuroendocrine cell hyperplasia of infancy. (J:323100)

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 Nkx2-1 Mutation: 26 strains or lines available

References

• Original: J:323100 Xu J, et al., Excess neuropeptides in lung signal through endothelial cells to impair gas exchange. Dev Cell. 2022 Apr 11;57(7):839-853.e6
• All: 1 reference(s)