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| Nomenclature |
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Symbol:
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Col7a1tm1Lbt
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Name:
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collagen, type VII, alpha 1;
targeted mutation 1, Leena Bruckner-Tuderman
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MGI ID: |
MGI:3796248 |
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Synonyms: |
Col7a1flneo |
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Gene:
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Col7a1
Location:
Chr9:108953586-108984875 bp, + strand
Genetic Position: Chr9,
59.63 cM
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Col7a1tm1Lbt/Col7a1tm1Lbt mice develop blisters early after birth
Show the 6 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:136145
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: A loxP site was inserted upstream of exon 2 and an frt-flanked neo cassette with a 3' loxP site was inserted downstream of exon 2. Aberrant splicing creates a hypomorphic allele with reduced expression levels. (J:136145)
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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 Col7a1 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:136145
Fritsch A et al.,
"A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy."
J Clin Invest 2008 May;118(5):1669-79
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All: |
2 reference(s)
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Analysis Tools
