A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at about one fifth of the wild-type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand. (J:46380)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
19
6

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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