Als2^tm1Jei
Targeted Allele Detail

Summary

• Symbol: Als2^tm1Jei
• Name: alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Joh-E Ikeda
• MGI ID: MGI:3612978
• Synonyms: Als2^-, Als2^tm1Jeo
• Gene: Als2 Location: Chr1:59202085-59276390 bp, - strand Genetic Position: Chr1, 29.33 cM
• Alliance: Als2^tm1Jei page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104446
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 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)

Disease models

Expression

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

Notes

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.

References

• 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: 7 reference(s)