The floxed fragment containing exon 10 was excised from Igf2rtm1Rlj via in vivo cre mediated recombination. Sequence analysis indicated that the deletion of exon 10 will cause a shift in the open reading frame resulting in a stop codon upstream of the mannose 6-phosphate binding site, the Igf2 protein product binidng site, and the transmembrane domain. While, protein was undetected in mutant embryos by Western blot analysis, immunohistochemical analysis showed protein expression in developing bronchiolar structures. This staining putatively represents expression from an unsilenced paternal allele. (J:80932)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Intragenic deletion
--
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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