Col11a1基因在这个自然发生的突变中发生异常,即软骨发育不全(cho)。连锁分析将Col11a1定位到与cho突变相同的3号染色体区域。在cho纯合子的mRNA中,Col11a1基因的下游有一个单个核苷酸(C)缺失,这导致mRNA的阅读框被打乱,并插入了一个早停密码子。(来源:J:22965)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6Fr
Spontaneous
基因内删除
隐性
1
8
15

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

Title
PMID
Journal
Year
IF
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