Exon 4, intron 4, and part of exon 5 were replaced with a PGK-neo cassette via homologous recombination. Mutant gene transcripts were detected in homozygous mutant embryos by RNase protection assay and RT-PCR analysis. Sequencing of the RT-PCR product revealed the mutant transcript was spliced from exon 3 to exon 6 resulting in a frameshift and nonsense mutation in exon 7. Absence of protein product in homozygous mutants was confirmed by immunohistochemical analysis of E13.5 embryo sections and FAP-specific activity assays. (J:59998)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
--
7

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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