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Nup35m1Apb
Chemically induced Allele Detail
Summary
Symbol: Nup35m1Apb
Name: nucleoporin 35; mutation 1, Australian Phenomics Facility
MGI ID: MGI:6154324
Synonyms: IGL00645, Nup35F192L
Gene: Nup35  Location: Chr2:80469156-80490415 bp, + strand  Genetic Position: Chr2, 48.31 cM
Alliance: Nup35m1Apb page
Mutation
origin
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA T-to-A mutation in codon 114 resulted in an phenylalanine to leucine mutation in the encoded protein. (J:235141)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  35 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)

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