第五外显子被替换为一个,其中的核苷酸变异导致第131和132位氨基酸由亮氨酸替换为异亮氨酸(Leu131A, Leu132A)。在经过基因组的germ line和Cre介导的重组后,一个上游的floxed hygro cassette被去除了。这些改变发生在二亮氨酸序列内。(来源:J:142387)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
1
3

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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