A deletion of a single G residue at position 3978 (Col1a2:NM_007743.3:c.3978del) is predicted to result in a frameshift mutation and an alteration of the last 48 amino acids in the encoded protein. (J:4348, J:17202, J:41994)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/HeJ x C57BL/6JLe)F2
Spontaneous
Intragenic deletion
Recessive
1
18
47

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

References Literature

Title
PMID
Journal
Year
IF
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