Nup133^mermaid
Chemically induced Allele Detail

Summary

• Symbol: Nup133^mermaid
• Name: nucleoporin 133; mermaid
• MGI ID: MGI:3578539
• Synonyms: Nup133^merm
• Gene: Nup133 Location: Chr8:124623862-124676004 bp, - strand Genetic Position: Chr8, 72.27 cM
• Alliance: Nup133^mermaid page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Mermaid was identified in an ENU mutagenesis screen. A G-to-A mutation was identified at the first base of intron 22 (GRCm39:chr8:124634494C>T), changing exon/intron 22 splice donor T-GT to T-AT, which results in exon 21 splicing directly to exon 23. This results in a frameshift generating a premature stop codon. Crossing to a genetrap allele of Nup133 failed to complement the phenotype, (J:137199)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	48 assay results
In Structures Affected by this Mutation:	11 anatomical structure(s)

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 Nup133 Mutation: 58 strains or lines available

References

• Original: J:98216 Garcia-Garcia MJ, et al., Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5913-9
• All: 3 reference(s)