在替换了serines 246, 467, 和632为alanines的Hdac4信号抵抗型突变体中,其表达是通过Col2a1基因的3kb序文段和3kb的特异于成骨细胞的增强子区域驱动的。这种转录本在增殖的软骨细胞中观察到了表达。(来源:J:94631)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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插入
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1
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1

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

References Literature

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PMID
Journal
Year
IF
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