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This mutation consists of a 21 nucleotide deletion in the Fbn2 gene that removes that last 7 nucleotides of exon 38 and 14 nucleotides of intron 38, including the splice donor sequence. The mutation results in the aberrant skipping of exon 38. (J:68881)
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
