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Wednesday, February 15, 2023

02-15-2023-1408 - scrambler mouse

Scrambler is a spontaneous mouse mutant lacking a functional DAB1 gene, resulting in a phenotype resembling that seen in the reeler mouse.[1] The strain was first described by Sweet et al. in 1996.[2]

Neuroanatomical abnormalities

The spontaneous autosomal recessive scrambler mutation on chromosome 4 causes a deficiency of DAB1, encoding disabled-1, a protein involved in the signaling of the Reelin protein, lacking in the reeler mutant,[3] Dab1-scm homozygous mutants possess a reeler-like phenotype with respect to cell malpositioning in cerebellar cortex, hippocampus, and neocortex.[4][5] Purkinje cell and granule cell degeneration results in ataxia.[6] Despite normal Reln mRNA levels, Dab1-scm mutants have defective reelin signaling, indicating that disabled-1 acts downstream of reelin. Cell ectopias are identical with targeted disruption of Dab1.[7][8] 

https://en.wikipedia.org/wiki/Scrambler_mouse

 

 

 

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