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| Nomenclature |
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Symbol:
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Col1a2oim
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Name:
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collagen, type I, alpha 2;
osteogenesis imperfecta
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MGI ID: |
MGI:1856327 |
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Synonyms: |
oim |
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Gene:
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Col1a2
Location:
Chr6:4504814-4541543 bp, + strand
Genetic Position: Chr6,
1.81 cM
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Radiograph comparison of wild type and Col1a2oim/Col1a2oim mice
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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(C3H/HeJ x C57BL/6JLe)F2
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A deletion of a single G residue at position 3983 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Heterozygotes exhibit phenotypic similarity to human syndrome: mild form of osteogenesis imperfecta (J:38013).
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| References |
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Original: |
J:4348
Chipman SD et al.,
"Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta."
Proc Natl Acad Sci U S A 1993 Mar 1;90(5):1701-5
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All: |
32 reference(s)
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Analysis Tools
