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Spontaneous Allele Detail
Symbol: LmnaDhe
Name: lamin A; disheveled hair and ears
MGI ID: MGI:3848037
Gene: Lmna  Location: Chr3:88481148-88509932 bp, - strand  Genetic Position: Chr3, 38.84 cM
LmnaDhe/Lmna+ mice (right) have a sparse and gray coat, small size and small pinnae

Show the 6 phenotype image(s) involving this allele.

Strain of Origin:  BXD8/TyJ
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA 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)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 33 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Lmna Mutation:  59 strains or lines available
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory