Espn^je
Spontaneous Allele Detail

Summary

• Symbol: Espn^je
• Name: espin; jerker
• MGI ID: MGI:1856573
• Synonyms: je
• Gene: Espn Location: Chr4:152204788-152236828 bp, - strand Genetic Position: Chr4, 82.9 cM, cytoband E1
• Alliance: Espn^je page

Mutation origin

• Strain of Origin: fancier's dancing mouse

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A single nucleotide deletion (G) at position 2426 of the Espn gene results in a frameshift mutation and premature stop in the C-terminal actin binding domain. Normal levels of mRNA are observed, but no accumulation of protein is observed in the jerker mouse. (J:53411)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	6 assay results
In Structures Affected by this Mutation:	11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Espn Mutation: 37 strains or lines available

References

• Original: J:13121 Gruneberg H, et al., The origin of jerker, a new gene mutation of the house mouse, and linkage studies made with it. Proc Natl Acad Sci U S A. 1941 Dec 15;27(12):562-565
• All: 21 reference(s)