A targeting vector was constructed with an in-frame deletion of the six bp within exon 8 that encode for asparagine 319 and aspartic acid 320. This mutation was predicted to prevent calcium binding and protein polymerization. For diagnostic purposes, a Xho I restriction site was removed and a Sca I site was added within exon 8, and a Bgl II site was inserted 68 bp upstream from the start of exon 8. The vector replaced exon 8 and inserted a pgk-HPRT selection cassette into intron 10. Protein isolated from heterozygous mice was not fully protected from plasmin cleavage in the presence of calcium demonstrating altered calcium binding by the mutated protein. (J:130183)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
6
2

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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