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A transition of C to T results in the amino acid substitution of serine with leucine at position 220 (p.S220L), replicating the S218L mutation found in some familial hemiplegic migraine type 1 (FHM1) patients. A loxP site flanked neomycin resistance gene cassette inserted upstream of exon 5 was removed through germ line cre-mediated recombination. (J:144701, J:211767)
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
