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中文
在exon 34的第6272位，T碱基被删除。插入了一个FRT引导的PGK/gb2-neomycin替换单位，位于exon 34上游，通过flp介导的重组被移除。6272delT变异导致了一个在下游8个核苷酸位置的早发性终止密码子（p.Phe2091SerfsX4）。这与Hajdu Cheney综合症关联（J:311038）。
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
