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A T-to-A transversion point mutation on the coding negative strand (g.chr6:124727383A>T on build GRCm38) at a splice consensus site (G-GT>G-GA) results in the use of two other cryptic sites. One site would result in five amino acids being deleted from the encoded protein and the other would include 69bp of intronic sequence, coding for 23 amino acids, in the transcript. (J:11892, J:42157)
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
