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A CTCT repeat located six base pairs 5' to exon 4 is replaced with a 225-bp repetitive sequence which is 100% homologous to a repeat element located 797 bp upstream. This interferes with the third intron 3' splice site resulting in exon3 spliced to exon 5. The resulting protein, lacking exon 4, is not secreted as is the wild-type allele. (J:105260)
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
