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The sequences encoding the first 435 amino acids (including 16 out of 19 leucine repeats) corresponding to exon 1, intron 1, and part of exon 2 were replaced by a neomycin resistance cassette. Northern blot analysis showed an absence of gene transcripts in liver and kidneys of homozygous mutant animals. Plasma proteins from homozygous animals were unable to form cross-linking complexes which is consistent with deletion of the 16 leucine repeats. (J:62710)
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
