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| Nomenclature |
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Symbol:
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Col1a1Aga2
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Name:
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collagen, type I, alpha 1;
abnormal gait 2
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MGI ID: |
MGI:3769585 |
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Synonyms: |
Aga2, Aga2mild, Aga2severe |
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Gene:
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Col1a1
Location:
Chr11:94936224-94953042 bp, + strand
Genetic Position: Chr11,
59.01 cM, cytoband D
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Col1a1Aga2/Col1a+ mice display skeletal and growth abnormalities
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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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This mutation was identified in the Munich ENU dominant mutagenesis screen. A T to A transverion was identified within intron 50, generating a novel 3' splice acceptor site. The mutation results in a 16 base expansion of the transcript. (J:129569)
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Inheritance: | |
Dominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Col1a1 Mutation:
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64 strains or lines available |
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| References |
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Original: |
J:129569
Lisse TS et al.,
"ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta."
PLoS Genet 2008 Feb;4(2):e7
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All: |
2 reference(s)
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Analysis Tools
