这个等位基因包含MSN(Madison)模型中特有的一些自发突变,这些突变会对编码的肽链产生预测的致病影响,与来源的Hsd:ICR品系相比,包括但不限于以下基因座的改变:g.chr11:59000521C>CTGG(p.P7061dup)(位置59,000,521,c.17041C>T,p.arginine7061duplication)、g.chr11:59000884C>T(p.V6941M)(位置59,000,884,c.20820C>T,p.valine6941mutant)、g.chr11:59076137G>A(p.H3164Y)(位置59,076,137,g.14225421G>A,p.histidine3164lysine)。这些变异仅限于MSN品系,而非Hsd:ICR、MaD2(Maternal Defense 2)或C57BL/6J参考品系。(来源:J:267654)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
MSN/GammMmmh
Spontaneous
Insertion, Single point
--
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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