12号外显子和13号外显子融合了,13号外显子的G变A导致第324位的丝氨酸被天冬氨酸取代(A324T)。在12号外显子上游插入了一个FRT引导的诺卡因抗性基因座,带有5'的loxP位点。(来源:J:224431)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x 129X1/SvJ)F1
Targeted
Insertion, Intragenic deletion, Single point
--
1
2
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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