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This spontaneous G>T mutation in intron 2 at the exon 2-intron 2 boundary, which changes splice donor site G-GT to a non-functional G-TT sequence (c.259+1G>T), was found in Jcl:iCR closed colony mice. The mutation results in an alternative splicing event skipping exon 2, which leads to a frameshift and premature stop codon. (J:250073)
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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References Literature
Title
PMID
Journal
Year
IF
