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The molecular lesion is a point mutation in the intron between exons 2 and 3, predicted to be damaging because it substitutes a C nucleotide for the essential +2 T of the splice donor consensus sequence. Mutant transcripts show several aberrant splicing patterns, all which result in a frame-shift and premature stop codons. (J:244584)
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
