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Als2tm1Deng
Targeted Allele Detail
Nomenclature
Symbol: Als2tm1Deng
Name: amyotrophic lateral sclerosis 2 (juvenile); targeted mutatation 1 Han-Xiang Deng
MGI ID: MGI:3770658
Synonyms: Alsin-
Gene: Als2  Location: Chr1:59162926-59237231 bp, - strand  Genetic Position: Chr1, 29.33 cM
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 detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
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:  21 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:  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
01/20/2015
MGI 5.21
The Jackson Laboratory