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Nod2tm1Daph
Targeted Allele Detail
Summary
Symbol: Nod2tm1Daph
Name: nucleotide-binding oligomerization domain containing 2; targeted mutation 1, Dana Philpott
MGI ID: MGI:4437257
Synonyms: Nod2239iCstop, Nod22939iCstop, Nod2Leu980fs, Nod2m
Gene: Nod2  Location: Chr8:89373943-89415102 bp, + strand  Genetic Position: Chr8, 43.51 cM, cytoband C3
Alliance: Nod2tm1Daph 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 detailsExons 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  63 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory