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EN
A spontaneous C-to-T substitution (G-to-A on negative gene strand) on chromosome 11 position 69,000,590 (GRCm38), destroys exon 7 splice acceptor site CAG by changing it to CAA, which is predicted to result in the total loss of exon 7, leading to the loss of amino acids 228-274 in the AIR synthase-related region of the PurM-like domain. (J:194958, 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
