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This spontaneous G-to-A transition at chromosome 19 position 46,133,123 bp (GRCm38) eliminates the exon 2 splice acceptor site by changing it from CAG to CAA, which is expected to yield a functional null but this has not been confirmed with transcript or protein analysis. (J:222308)
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
