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| Nomenclature |
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Symbol:
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EnamRgsc514
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Name:
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enamelin;
RIKEN Genomic Sciences Center (GSC), 514
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MGI ID: |
MGI:3055586 |
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Synonyms: |
Enam2Rgsc, M100514 |
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Gene:
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Enam
Location:
Chr5:88487982-88506049 bp, + strand
Genetic Position: Chr5,
43.66 cM, cytoband E2
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Mutation
origin |
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Strain of Origin:
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C57BL/6JJcl
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A single A to G nucleotide substitution in exon 5 leads to substitution of glutamic acid for glycine at amino acid position 57. (J:93014, J:96349)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
