Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	AmelxRgsc888
Name:	amelogenin, X-linked; RIKEN Genomic Sciences Center (GSC), 888
MGI ID:	MGI:3807977
Synonyms:	AmelxY64H, M100888
Gene:	Amelx  Location: ChrX:167959110-167970196 bp, - strand  Genetic Position: ChrX, 78.95 cM
Alliance:	AmelxRgsc888 page

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

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

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:	25 strains or lines available

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)