A T to C transition at position 2763 (position 2659 on Build GRCm39) resulting in a tryptophan to arginine substitution at amino acid 887 was inserted into exon 19. An FRT-flanked neomycin selection cassette was inserted downstream of exon 19 and removed via Flp-mediated recombination. This is a mutation associated with human familial hemiplegic migraine type 2. The mutant protein is barely detectable in the brain of homozygotes and reduced in heterozygotes. (J:307518)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
10
2

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

References Literature

Title
PMID
Journal
Year
IF
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