Enam^Rgsc521
Chemically induced Allele Detail

Summary

• Symbol: Enam^Rgsc521
• Name: enamelin; RIKEN Genomic Sciences Center (GSC), 521
• MGI ID: MGI:3055587
• Synonyms: Enam^tm3Rgsc, M100521
• Gene: Enam Location: Chr5:88635834-88653908 bp, + strand Genetic Position: Chr5, 43.66 cM, cytoband E2
• Alliance: Enam^Rgsc521 page

Mutation origin

• Strain of Origin: C57BL/6JJcl
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A T-to-A nucleotide substitution disrupts a donor splicing signal in intron 4, changing it from A-GT to A-GA, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation. (J:93014, J:96349)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Enam Mutation: 71 strains or lines available

References

• Original: J:96349 Masuya H, et al., Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). Hum Mol Genet. 2005 Mar 1;14(5):575-83
• All: 2 reference(s)