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A cysteine to alanine missense mutation was generated at codon 64 (C64A) in exon 2 by site directed mutagenesis. An artifactual loxP site remained in intron 2 after the floxed neo selection cassette was removed by in vitro cre mediated recombination. The incorporation of the missense mutation was confirmed by sequence analysis and protein levels similar to those of wild-type were detected by Western blot anlaysis of homozygous mutant mice. (J:83750)
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
