CRISPR/Cas9技术产生了一个5'-UTR中的单个-14C到T碱基转换,形成一个新的ATG起始位点,增加了5个氨基酸(MALEP),与自然编码序列保持同帧。这在某些型维骨营养不良(V)患者中观察到。(来源:J:255349)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CD-1
Endonuclease-mediated
单点
--
1
3
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

Title
PMID
Journal
Year
IF
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