Enam^Rgsc514
Chemically induced Allele Detail

Summary

• Symbol: Enam^Rgsc514
• Name: enamelin; RIKEN Genomic Sciences Center (GSC), 514
• MGI ID: MGI:3055586
• Synonyms: Enam^2Rgsc, M100514
• Gene: Enam Location: Chr5:88635834-88653908 bp, + strand Genetic Position: Chr5, 43.66 cM, cytoband E2
• Alliance: Enam^Rgsc514 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 single A-to-G nucleotide substitution in exon 5 leads to substitution of glutamic acid for glycine at amino acid position 57 (p.E57G). (J:93014, J:96349)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

2 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)