Exon 1 was replaced with a modified exon 1 in which nucleotide substitutions (ATG to CTA) results in the amino acid substitution of leucine for methionine at position 1 (p.Met1Leu). This mutation prevents the expression of the long isoform. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 1. Western blot analysis confirmed the absence of long isoform expression and increased expression of the short isoform in the kidney and liver. (J:198361)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Nucleotide substitutions
--
1
11
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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