在exon 1插入了3个碱基(AAG)的缺失,导致删除了lysine 32,随后在intron 1内插入了一个可剔除的neo-cre cassette,通过同源重组实现。这个neo-cre cassette在雄性生殖细胞中能自我剔除。纯合小鼠中,lamina A/C蛋白在骨骼肌中的表达降低,并且在发育至E17.5期的胚胎中,其无法重新定位至核周区域。(来源:180603)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
插入,基因内删除
--
1
44
5

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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