Als2^tm1Garo
Targeted Allele Detail

Summary

• Symbol: Als2^tm1Garo
• Name: alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Guy A Rouleau
• MGI ID: MGI:3807480
• Gene: Als2 Location: Chr1:59202085-59276390 bp, - strand Genetic Position: Chr1, 29.33 cM
• Alliance: Als2^tm1Garo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:138147
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neo cassette replaced exon 2 and part of exon 3 via homologous recombination. Immunoblot blot analysis confirmed the absence of full length protein in brains from homozygous mice. However, immunoblot and RT-PCR analysis detect the presence of other Als2 isoforms in neurons. (J:138147)

Disease models

Expression

In Mice Carrying this Mutation:	44 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Als2 Mutation: 88 strains or lines available

References

• Original: J:138147 Gros-Louis F, et al., Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Hum Mol Genet. 2008 Sep 1;17(17):2691-702
• All: 1 reference(s)