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Targeted Allele Detail
Symbol: Als2tm1Garo
Name: amyotrophic lateral sclerosis 2 (juvenile); targeted mutation 1, Guy A Rouleau
MGI ID: MGI:3807480
Gene: Als2  Location: Chr1:59162926-59237231 bp, - strand  Genetic Position: Chr1, 29.33 cM
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+
Allele Type:    Targeted (Modified isoform(s), Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  51 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.06
The Jackson Laboratory