|
|
| Nomenclature |
|
Symbol:
|
EnamRgsc521
|
|
Name:
|
enamelin;
RIKEN Genomic Sciences Center (GSC), 521
|
|
MGI ID: |
MGI:3055587 |
|
Synonyms: |
Enamtm3Rgsc, M100521 |
|
Gene:
|
Enam
Location:
Chr5:88487982-88506049 bp, + strand
Genetic Position: Chr5,
43.66 cM, cytoband E2
|
|
Mutation
origin |
|
Strain of Origin:
|
C57BL/6JJcl
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: A T to G nucleotide substitution disrupts a donor splicing signal, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation. (J:93014, J:96349)
|
|
Inheritance: | |
Semidominant |
|
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)
|
| 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)
|
|
Analysis Tools
