Exon 1 and flanking intronic sequences were deleted and replaced with a floxed PGK-neo cassette via homologous recombination. Transient expression of cre recombinase in correctly targeted cells removed the selection cassette leaving behind a single loxP site in place of exon 1. Gene expression was absent in the heart, brain, and skeletal muscle of homozygous mutant animals as determined by Northern blot analysis. However, an aberrant transcript was detected in placentas from homozygous mutant embryos. RT-PCR analysis revealed the mutant transcript results from alternative splicing of intron 2 to exon 3 and does not translate a functional protein product. (J:69978)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
--
12

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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