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AmelxRgsc888
Chemically induced Allele Detail
Nomenclature
Symbol: AmelxRgsc888
Name: amelogenin, X-linked; RIKEN Genomic Sciences Center (GSC), 888
MGI ID: MGI:3807977
Synonyms: AmelxY64H, M100888
Gene: Amelx  Location: ChrX:169176114-169187200 bp, - strand  Genetic Position: ChrX, 78.95 cM
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 detailsAn 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 7 anatomical structures
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:  2 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/10/2019
MGI 6.14
The Jackson Laboratory