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A neomycin resistance cassette was inserted into exon 3, disrupting sequences encoding the beginning of the helix domain. RT-PCR assays did not detect expression of a normal transcript in cartilage RNA derived from homozygous mice, although low levels of a mutant transcript were detected. Immunohistochemical analysis on cartilage of 2 day old homozygous mice confirmed the deficiency of the protein. (J:38124)
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
