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| Nomenclature |
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Symbol:
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LmnaDhe
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Name:
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lamin A;
disheveled hair and ears
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MGI ID: |
MGI:3848037 |
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Gene:
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Lmna
Location:
Chr3:88481148-88509956 bp, - strand
Genetic Position: Chr3,
38.84 cM
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LmnaDhe/Lmna+ mice (right) have a sparse and gray coat, small size and small pinnae
Show the 6 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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BXD8/TyJ
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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 T155G transversion is present in exon 1, leading to a missense mutation which substitutes an arginine for a leucine at amino acid 52. This mutation is predicted to disrupt the coiled coil rod domain of the protein. Mapping data showed the mutation to have occurred within a C57BL/6J derived region of the BXD8/TyJ genome. (J:160175)
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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:160175
Odgren PR et al.,
"Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies."
PLoS One 2010;5(4):e9959
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All: |
3 reference(s)
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Analysis Tools
