Mouse Models SCA38 Publication

Elovl5-/- mice

Identification

Causal gene(s)
ELOVL5
Repeat size or mutation
Homozygous Elovl5 knock-out mice
Animal model
Mouse

Model Details

Mouse strain / background
C57BL/6J
Type of model
knockout

Transgenic Construct

Transgenic construct: details
ES cell clone (DTM098) harbors an insertion of gene trap vector 7.9 kb downstream of exon 1 of Elovl5 resulting in knock-out. ES cells were injected in mice blastocyst

Phenotype

Hallmark features
Motor coordination impairment, disruption of cerebellar architecture, alterations in cerebellar excitatory presynaptic mechanisms

Source & Publications

Originating lab / institution
University of Texas Southwestern Medical Center at Dallas

Twenty Twenty-Five

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