Lmna^Dhe
Spontaneous Allele Detail

Summary

• Symbol: Lmna^Dhe
• 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
• Alliance: Lmna^Dhe page

Lmna^Dhe/Lmna⁺ mice (right) have a sparse and gray coat, small size and small pinnae

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

Mutation origin

• Strain of Origin: BXD8/TyJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

28 anatomical structure(s)

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: 84 strains or lines available

References

• 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)