Nup35^m1Apb
Chemically induced Allele Detail

Summary

• Symbol: Nup35^m1Apb
• Name: nucleoporin 35; mutation 1, Australian Phenomics Facility
• MGI ID: MGI:6154324
• Synonyms: IGL00645, Nup35^F192L
• Gene: Nup35 Location: Chr2:80469156-80490415 bp, + strand Genetic Position: Chr2, 48.31 cM
• Alliance: Nup35^m1Apb page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A T-to-A mutation in codon 114 resulted in an phenylalanine to leucine mutation in the encoded protein. (J:235141)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nup35 Mutation: 32 strains or lines available

References

• Original: J:235141 Parish IA, et al., A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy. Am J Pathol. 2016 Sep;186(9):2254-61
• All: 1 reference(s)