Nmnat2^em1Jmi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nmnat2^em1Jmi
• Name: nicotinamide nucleotide adenylyltransferase 2; endonuclease-mediated mutation 1, Jeffrey Milbrandt
• MGI ID: MGI:7469675
• Synonyms: Nmnat2^V98M
• Gene: Nmnat2 Location: Chr1:152830744-152995007 bp, + strand Genetic Position: Chr1, 65.15 cM
• Alliance: Nmnat2^em1Jmi page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a valine to methionine substitution at amino acid 98 (p.V98M). V98M is a rare missense variant identified in two brothers afflicted with a progressive neuropathy syndrome. (J:335315)

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 Nmnat2 Mutation: 272 strains or lines available

References

• Original: J:335315 Dingwall CB, et al., Macrophage depletion blocks congenital SARM1-dependent neuropathy. J Clin Invest. 2022 Dec 1;132(23)
• All: 1 reference(s)