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The Col11a1 gene is disrupted in this naturally occurring mutation, chondrodysplasia (cho). Linkage studies map Col11a1 to the same region of Chr 3 as the cho mutation. There is a single nucleotide (C) deletion in the Col11a1 gene downstream of the translation initiation codon in mRNA from cho homozygotes; this disrupts the reading frame of the mRNA and introduces a premature stop codon. (J:22965)
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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References Literature
Title
PMID
Journal
Year
IF
