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中文
对序列分析显示，自发性地发生了第139或140位的天冬酰胺密码子缺失，通过从序列AACAACAA的415-422位位置删除CAA/ACA/AAC。这个缺失的密码子位于α螺旋杆域。这种分子异常与Krt71Ca-Rin、Krt71Ca-J和Krt71Ca-10J中已识别的病变相同。 (Source: Sequence analysis identified the spontaneous deletion of asparagine at codons 139 or 140 in the alpha-helical rod domain, identical to Krt71Ca-Rin, Krt71Ca-J, and Krt71Ca-10J.)
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
