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A proline to leucine substitution at amino acid 527 (p.P517L) was introduced in exon 15. The FRT-flanked neomycin resistance cassette that was inserted 50 bp downstream of the end of the 3 UTR was removed via flp-mediated recombination. This mutation is equivalent to the human P525L allele associated with a rapidly progressive, juvenile-onset form of amyotrophic lateral sclerosis. (J:326930)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
