Nod2^tm1Daph
Targeted Allele Detail

Summary

• Symbol: Nod2^tm1Daph
• Name: nucleotide-binding oligomerization domain containing 2; targeted mutation 1, Dana Philpott
• MGI ID: MGI:4437257
• Synonyms: Nod2^239iCstop, Nod2^2939iCstop, Nod2^Leu980fs, Nod2^m
• Gene: Nod2 Location: Chr8:89373943-89415102 bp, + strand Genetic Position: Chr8, 43.51 cM, cytoband C3
• Alliance: Nod2^tm1Daph page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157879
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exons 11 and 12 were replaced with a 2.2 kb genomic region that contains an additional cytosine at position 2939 in exon 11 followed by a stop codon. This insertion results in the amino acid substitution of leucine with proline at position 980 (L980P) followed by a premature termination. This mutation is associated with Crohn's disease in humans (3020iC, L1007insC). (J:157879)

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 Nod2 Mutation: 62 strains or lines available

References

• Original: J:157879 Travassos LH, et al., Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. Nat Immunol. 2010 Jan;11(1):55-62
• All: 2 reference(s)