Amelx^Rgsc888
Chemically induced Allele Detail

Summary

• Symbol: Amelx^Rgsc888
• Name: amelogenin, X-linked; RIKEN Genomic Sciences Center (GSC), 888
• MGI ID: MGI:3807977
• Synonyms: Amelx^Y64H, M100888
• Gene: Amelx Location: ChrX:167959110-167970196 bp, - strand Genetic Position: ChrX, 78.95 cM
• Alliance: Amelx^Rgsc888 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: An ENU induced T to C transition at nucleotide 249 of coding sequence resulted in the missense mutation Y64H in the encoded protein. RT-PCR showed no differences in the mRNA level. SDS-PAGE of secretory stage developing enamel showed lack of high molecular weight nascent amelogenin proteins in hemizygous males. (J:157947)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	9 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 Amelx Mutation: 26 strains or lines available

References

• Original: J:133634 RIKEN BioResource Center/RIKEN Genomic Sciences Center, A Large Scale Mutagenesis Program in RIKEN GSC. PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/). 2008
• All: 4 reference(s)