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A G to A change in exon 33 resulting in a glycine to serine substitution at amino acid 574 (Gly574Ser) was introduced slightly carboxy-terminal to the middle of the triple helical domain of the mouse type II collagen (Col2a1). This mutation was identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis, and acts as a dominant negative. (J:38204)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
