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Fine-mapping of the breakpoints and sequencing of the junction fragment indicate that the deletion begins at 103,220,541 bp and ends at 103,229,530 bp (NCBI37/mm9) and is 8990 bp, where 2074 bp are in the promoter, 104 bp in exon 1, and 6812 in intron 1. Western blot of heterozygous females confirmed decreased protein expression. (J:17492, J:17493, J:41599, J:69983, J:220263)
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
