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| Nomenclature |
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Symbol:
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Dnm1Ftfl
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Name:
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dynamin 1;
fitful
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MGI ID: |
MGI:3033341 |
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Gene:
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Dnm1
Location:
Chr2:32308471-32353329 bp, - strand
Genetic Position: Chr2,
22.09 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A single change of a G-to-A in the first of two alternatively spliced regions results in an alanine to threonine substitution at amino acid 408. This mutation only affects the Dnm1ax isoform sequences; the a exon is spliced out in the Dnm1bx forms, resulting all three Dnm1ax transcripts being altered. (J:163311)
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Inheritance: | |
Semidominant |
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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:163311
Boumil RM et al.,
"A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice."
PLoS Genet 2010 Aug;6(8):
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All: |
1 reference(s)
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Analysis Tools
