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| Nomenclature |
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Symbol:
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Col1a1tm1.1Jcm
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Name:
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collagen, type I, alpha 1;
targeted mutation 1.1, Joan C Marini
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MGI ID: |
MGI:2158863 |
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Synonyms: |
BrtlIV |
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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 and small size of Col1a1tm1.1Jcm/Col1a1+ mice
Show the 3 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: This allele is a derivative of Col1a1tm1Jcm in which the loxP-flanked stop-neomycin selection cassette was removed by mating mice carrying Col1a1tm1Jcm to mice expressing Cre recombinase under the control of an EIIa promoter. F2 mice of this cross were screened for deletion of the cassette sequences. RT-PCR analysis and northern blots confirmed the expression of the mutant allele. Western blot analysis confirmed that the mutant protein was expressed in skin of 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: |
7 reference(s)
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Analysis Tools
