A targeting vector inserted an FRT-flanked human cDNA (exons 3 through 48) into intron 2. Cre-mediated recombination removed the floxed puromycin resistance cassette inserted downstream of the human cDNA. This allele is humanized. Western blot analysis confirmed reduced protein expression in the lower limb and heart when the allele is inherited maternally. Paternal inheritance of the allele does not exhibit altered protein expression. (J:197171)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion
--
1
1
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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