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This mutation was discovered by its visible phenotype among F1 progeny of an ENU mutagenized C57BL/6J male mouse. The mutation was mapped to chromosome 15 and shown to be a mutation in the Col2a1 gene causing a Serine to proline change in the amino acid encoded by codon 1386. (J:187141)
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
