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Site-directed mutagenesis converted cysteine codon 303 (TGT) in exon 12 to phenylalanine (TTT) (p.C303F). Additional, silent, mutations were introduced in the next two downstream codons to introduce a diagnostic SpeI restriction site. A loxP site flanked neomycin resistance gene cassette that was inserted into intron 10 was removed through subsequent Cre-mediated recombination. The mutation disrupts binding of the encoded peptide to Smr3a (RPL5) and RPL11 gene products. (J:164200)
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
