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A targeting vector containing a 755-756 CA to GG substitution resulted in a Ser252Trp mutation in exon IIIa. A floxed neo was inserted into intron IIIa (exon 7). This allele was a hypomorph and either was not expressed or expressed in reduced levels. Expression of alternative transcripts IIIb and IIIc were reduced by 16% to 41% compared to normal transcripts in multiple tissues tested. (J:101174)
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
