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Spontaneous Allele Detail
Symbol: LmnaDhe
Name: lamin A; disheveled hair and ears
MGI ID: MGI:3848037
Gene: Lmna  Location: Chr3:88388455-88413842 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 c.155T>G transversion is present in exon 1, leading to a missense mutation which substitutes a leucine with an arginine at amino acid 52 (p.L52R). 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: 34 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:  73 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory