Nkx2-5^em1Dsr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nkx2-5^em1Dsr
• Name: NK2 homeobox 5; endonuclease-mediated mutation 1, Deepak Srivastava
• MGI ID: MGI:6360206
• Synonyms: Nkx2-5^A118S
• Gene: Nkx2-5 Location: Chr17:27057638-27063962 bp, - strand Genetic Position: Chr17, 13.6 cM
• Alliance: Nkx2-5^em1Dsr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated two point mutations, GCA to TCG change, resulting in an alanine to serine substitution at amino acid 118. (J:277399)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Nkx2-5 Mutation: 21 strains or lines available

References

• Original: J:277399 Gifford CA, et al., Oligogenic inheritance of a human heart disease involving a genetic modifier. Science. 2019 May 31;364(6443):865-870
• All: 1 reference(s)