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The codon for arginine 49 was altered to cysteine by homologous recombination. A loxP flanked neomycin cassette was introduced between exon 1 and 2, then subsequently was deleted by crossing with cre expressing transgenic mice. Mass spectrometry analyses confirmed alpha-R49C mutant protein expression in the mutant lenses. (J:132296)
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
