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A targeting vector was used to insert I740A, N744A, M748A point mutations in the LXCXE binding site. Sequencing of exon 22 confirmed successful recombination. Analysis of mutant fibroblasts confirmed that protein levels were equivalent to wild-type cells. Crossing with mice expressing cre recombinase in the germline removed a floxed neo included in the vector. These substitutions are predicted to make the leucine and cysteine residues of the LXCXE motif a looser fit than the endogenous cleft. (J:108366, J:151417)
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
