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Nucleotide substitution(s) result(s) in the amino acid substitution of alanine for tyrosine at position 1176 (Y1176A). This allele lacks the AP-2 binding site and a site involved in ERM interactions. Cre-mediated recombination removed the floxed neo cassette inserted into intron 26. Western blot analysis confirmed expression of the protein in the brain. (J:197240)
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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References Literature
Title
PMID
Journal
Year
IF
