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Exon 3 and flanking regions were deleted and replaced with a PGK-neo cassette via homologous recombination. The targeted mutation removes the heparan sulfate attachment while the core protein remains intact. RT-PC analysis of RNA from homozygous mutant embryos confirmed the exon 3 deletion. Fibroblasts derived from homozygous mutant cell culture were treated with heparitinase and chondroitinase, run on an SDS-PAGE gel, and immunoblotted to confirm the mutant protein retained the core protein and lacked heparan sulfate side chains. (J:81399)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
