|
|
| Nomenclature |
|
Symbol:
|
AmelxRgsc888
|
|
Name:
|
amelogenin X chromosome;
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
|
|
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 |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
16 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: |
2 reference(s)
|
|
Analysis Tools
