Als2^tm1Deng
Targeted Allele Detail

Summary

• Symbol: Als2^tm1Deng
• Name: alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Han-Xiang Deng
• MGI ID: MGI:3770658
• Synonyms: Alsin^-
• Gene: Als2 Location: Chr1:59202085-59276390 bp, - strand Genetic Position: Chr1, 29.33 cM
• Alliance: Als2^tm1Deng page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:129939
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced part of exon 3 and all of exon 4, eliminating expression of the endogenous short and long isoforms. RT-PCR and sequence analysis of brain tissue from homozygotes revealed a mutant mRNA was produced with exons 3 and 4 skipped, leading to a frame shift and premature stop codon in exon 5. This mutant transcript was predicted to produce a polypeptide that is only 9 amino acids long with no functional activity. No native protein was produced in homozygotes by Western blot analysis. (J:129939)

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

References

• Original: J:129939 Deng HX, et al., Distal axonopathy in an alsin-deficient mouse model. Hum Mol Genet. 2007 Dec 1;16(23):2911-20
• All: 2 reference(s)