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| Nomenclature |
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Symbol:
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EnamRgsc395
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Name:
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enamelin;
RIKEN Genomic Sciences Center (GSC), 395
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MGI ID: |
MGI:3055582 |
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Synonyms: |
Enam1Rgsc |
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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, G to T base substitution at position 6,489 of the genomic DNA sequence (AF303737, NCBI) was identified which leads to substitution of isoleucine for serine at amino acid position 55 of the translated protein. (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
