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A neo cassette replaced exon 13, which encodes a portion of the catalytic domain. Western blot indicated mRNA of the mutant allele was transcribed and translated as shorter forms of the protein, putatively lacking the catalytic domain portion encoded by exon 13. (J:91348)
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
