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The targeted mutation was within exon 2B to change the coding sequence for amino acid 73 from serine to alanine (S73A) and a silent nucleotide change 10bp upstream to generate a diagnostic restriction site. A floxed neomycin selection cassette was also inserted into intron 2. The selection cassette was subsequently removed by cre excision. (J:182722)
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
