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This allele comprises a deletion resulting in the complete loss of exons 2 to 18, resulting in a significantly shortened mRNA. The upstream breakpoint is in intron 1, 18.8 kb 3' of exon 1; the downstream breakpoint lies 10.5 kb past the final aggrecan exon 18. (J:58755)
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
