第56外显子被替换为一个包含导致第2814位氨基酸由丝氨酸替换为天冬氨酸(苏氨酸的替换,S2814D)的核苷酸突变。这种突变产生了一个持续激活的蛋白。随后是附带的floxed neo cassette,通过后续的Cre介导的重组会被去除。(来源:J:179475)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Nucleotide substitutions
--
1
8
8

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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