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ENU mutagenesis resulted in an G>T point mutation in exon 26 resulting in the substitution of glycine with tryptophan at position 627 of the encoded peptide (p.G627W). This is predicted to cause severe detrimental effects on collagen triple helix formation and stability. (J:102749)
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
