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Espnje
Spontaneous Allele Detail
Nomenclature
Symbol: Espnje
Name: espin; jerker
MGI ID: MGI:1856573
Synonyms: je
Gene: Espn  Location: Chr4:152120331-152152371 bp, - strand  Genetic Position: Chr4, 82.9 cM, cytoband E1
Mutation
origin
Strain of Origin:  fancier's dancing mouse
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 6 assay results
In Structures Affected by this Mutation: 11 anatomical structures
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:  24 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)

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
04/13/2021
MGI 6.16
The Jackson Laboratory