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Targeted Allele Detail
Symbol: Als2tm1Jei
Name: alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Joh-E Ikeda
MGI ID: MGI:3612978
Synonyms: Als2-, Als2tm1Jeo
Gene: Als2  Location: Chr1:59162926-59237231 bp, - strand  Genetic Position: Chr1, 29.33 cM
Germline Transmission:  Earliest citation of germline transmission: J:104446
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 3 was replaced with a neomycin resistance gene, allowing ablation of both short and long isoforms. Transcription is still possible from the endogenous promoter, however, protein translation is terminated after the first 14 amino acids, thereby removing all of the functional domains. Western blot failed to detect protein in various tissues of mutants. (J:104446)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
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:  18 strains or lines available
In J:104446, the authors state that despite the lack of phenotypic similarity to human ALS2 disease, these mice may be useful models for investigating the molecular pathogenesis of motorneuron diseases arising from ALS2 mutations.
Original:  J:104446 Hadano S, et al., Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum Mol Genet. 2006 Jan 15;15(2):233-50
All:  6 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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MGI 6.15
The Jackson Laboratory