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| Nomenclature |
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Symbol:
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Col1a1tm1Jcm
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Name:
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collagen, type I, alpha 1;
targeted mutation 1, Joan C Marini
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MGI ID: |
MGI:2154695 |
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Synonyms: |
BrtlII, Col1a1G349C |
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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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Skeletal abnormalities in Col1a1tm1.1Jcm/Col1a1+ and Col1a1tm1Jcm/Col1a1+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:59168
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Four point mutations were introduced: A G-to-T transverion at nucleotide 1546, prediced to alter amino acid 349 from glycine to cysteine; A C-to-T transition at nucleotide 1551 to create a GUC ribozyme cleaveage site and C-to-A and C-to-G mutations in codon 356 to alter the corresponding leucine to a methionine. A loxP-flanked neomycin selection cassette containing stop codons in all three reading frames was also inserted into intron 22. RT-PCR analysis on RNA from E18.5 homozygous embryos demonstrated that aberrant transcripts are produced from this allele that incorporate sequences from the stop-neomycin cassette, resulting in the expression of a truncated protein, shown by western blot on cultured fibroblasts derived from homozygous mice. (J:59168)
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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:59168
Forlino A et al.,
"Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice."
J Biol Chem 1999 Dec 31;274(53):37923-31
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All: |
1 reference(s)
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Analysis Tools
