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| Nomenclature |
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Symbol:
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Col4a1deltaex40
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Name:
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collagen, type IV, alpha 1;
delta exon 40
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MGI ID: |
MGI:3579521 |
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Gene:
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Col4a1
Location:
Chr8:11198423-11312826 bp, - strand
Genetic Position: Chr8,
5.53 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:98572
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation
description |
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Allele
Type: | |
Chemically induced (other) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A mutation in the splice acceptor site of exon 40 resulted in the direct splicing of exon 39 to exon 41. (J:98572)
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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 Col4a1 Mutation:
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13 strains or lines available |
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| References |
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Original: |
J:98572
Gould DB et al.,
"Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly."
Science 2005 May 20;308(5725):1167-71
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All: |
5 reference(s)
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Analysis Tools
