在人类918对应的密码子919上的C到T转换导致了蛋白质在这个位置编码丝氨酸而非甲硫氨酸。这种变异与人类MEN2型多内分泌腺瘤中常见于918密码子的突变相似。密码子920和921的silent突变消除了MunI限制酶位点。通过将携带Rettm2Cos的鼠与β-actin启动子驱动Cre表达的鼠杂交,移除了相邻的loxP引导的诺卡因 cassette。(来源:J:60659)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Single point
--
1
23
11

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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