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A leucine to serine substitution at position 389 (L389S) was introduced in exon 10 and a loxP-flanked neomycin resistance was inserted upstream of exon 10 and then removed via cre-mediated recombination. The L389S mutation is one of two identified to date in individuals with amyotrophic lateral sclerosis type 4 (ALS4). (J:320844)
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
